Gene Summary

Name:
NAD kinase 2, mitochondrial
Synonyms:
4933430B08Rik,  1110020G09Rik,  Nadkd1,  MNADK

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level Nadk2em1(IMPC)J HET Early adult 7.74×10-12
abnormal embryo turning Nadk2em1(IMPC)J HOM E9.5 0.00
preweaning lethality, complete penetrance Nadk2em1(IMPC)J HOM   Early adult 0.00
persistence of hyaloid vascular system Nadk2em1(IMPC)J HET Early adult 3.88×10-05
preweaning lethality, complete penetrance Nadk2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal coat/hair pigmentation Nadk2tm1b(EUCOMM)Wtsi HET Early adult 3.48×10-05
embryonic lethality prior to tooth bud stage Nadk2em1(IMPC)J HOM   E12.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 50% (1 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

24 Images

X-ray

XRay Images Forepaw

24 Images

X-ray

XRay Images Skull Lateral Orientation

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

24 Images

Gross Morphology Embryo E9.5

Images

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Legacy Phenotype Associated Images

View all 70 images

View all 6 images

Human diseases caused by Nadk2 mutations

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

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

The table below shows human diseases associated to Nadk2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased plasma carnitine, Abnormal circulating carnitine concentration, Decreased activity of N... ORPHA:431361
2,4-Dienoyl-Coa Reductase Deficiency
Decreased plasma free carnitine, Hyperlysinemia OMIM:616034

The table below shows human diseases predicted to be associated to Nadk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hyperlipidemia, Hepatomegaly,... ORPHA:369
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kina... OMIM:232400
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Hypercholesterolemia, D... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase OMIM:614582
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Decreased HDL cholesterol concentration, Increa... OMIM:607616
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S... ORPHA:75234
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased serum iron, Congenital hepatic fibrosis, Increased circula... ORPHA:446
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Jaundice, Hypertriglyceridemia, Splen... OMIM:603552
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Cholestasis OMIM:609313
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Combined Oxidative Phosphorylation Deficiency 52
Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, ... OMIM:619386
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnormality of iron ... ORPHA:79230
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepatic failure OMIM:602579
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Abnormal circulating acetylcarnitine c... ORPHA:71212
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Sple... OMIM:300635
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Mpi-Cdg
Congenital hepatic fibrosis, Hepatic failure ORPHA:79319
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated circulatin... OMIM:255120
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hypermethioninemia, Cholest... OMIM:614300
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Fanconi-Bickel Syndrome
Hypophosphatemia, Generalized aminoaciduria, Hepatocellular carcinoma, Elevated circulating alani... ORPHA:2088
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hyperglycinuria, He... OMIM:201450
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosp... OMIM:619013
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis OMIM:608600
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated hep... ORPHA:369840
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:617872
Retinitis Pigmentosa 59
Hepatomegaly, Elevated hepatic transaminase OMIM:613861
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hepatic steatosis, Abnormal circulating lipid... OMIM:615980
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis ORPHA:26792
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Hyperlipidemia ORPHA:435651
Rft1-Cdg
Hepatomegaly ORPHA:244310
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:615381
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated hepatic transaminase OMIM:602114
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Decreased pla... ORPHA:228305
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia ORPHA:363400
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Nephronophthisis 16
Hepatic fibrosis, Enlarged kidney, Cholestasis OMIM:615382
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Decreased carnitine... OMIM:212140
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce... OMIM:207750
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Hyp... OMIM:618805
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol conc... OMIM:604367
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Hepatomegaly, Decreased liver function, Abnormal enzyme/coenzyme ... ORPHA:570422
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased c... ORPHA:26793
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Increased circulating lactate de... OMIM:600649
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Elevated gamma-glutam... ORPHA:30391
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma, Posterior lenticonus ORPHA:231736
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, He... OMIM:618528
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase OMIM:615895
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase conce... ORPHA:435660
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Hepatic fibrosis, Hepatomegaly, Elevated circu... OMIM:207900
Senior-Loken Syndrome
Congenital hepatic fibrosis ORPHA:3156
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites ORPHA:890
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Infantile Liver Failure Syndrome 1
Hepatomegaly, Hepatic steatosis, Acute hepatic failure, Elevated hepatic transaminase OMIM:615438
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia OMIM:615415
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Hepatomegaly, Cholestasis OMIM:266920
Primary Biliary Cholangitis
Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Conjugated hyperbilirubinemia, Abnormal c... ORPHA:186
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Hepatic fibrosis, Hepatomegaly, Decreased liver function, Sple... OMIM:606003
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Meckel Syndrome, Type 3
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly OMIM:607361
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Decreased serum ... ORPHA:541423
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Aminoaciduria, Hepatomegaly, Decreas... OMIM:615486
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly,... ORPHA:42
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Senior-Loken Syndrome 9
Hepatic fibrosis, Cholestasis OMIM:616629
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Hyperthreoninemia OMIM:204000
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Increased... ORPHA:528
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Increased level of galactitol in pla... OMIM:230400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Hepatic steatosis, Hepatomegaly, Hepatic failure, Cyanosis OMIM:261680
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Hepatic fibrosis, Hepatome... OMIM:216360
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension OMIM:616589
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Pancreatitis OMIM:606721
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatos... ORPHA:275761
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Conjugated hyperbilirubinemia... ORPHA:480520
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenomegaly ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hyperuricemia, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Sp... ORPHA:79083
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Panc... OMIM:208540
Primary Sclerosing Cholangitis
Jaundice, Hypoalbuminemia, Cirrhosis, Acute hepatic failure, Elevated alkaline phosphatase of hep... ORPHA:171
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hypertrig... ORPHA:412
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Hypertriglyceridemia, In... ORPHA:444490
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function OMIM:614870
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Splenomegaly OMIM:608971
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice... OMIM:238600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hypocholesterolemia, Hepatic fibrosis, Hepatome... OMIM:212065
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Elevated hepatic transaminase, Hepatomegaly, Jaundi... ORPHA:540
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Conjugate... OMIM:616860
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Cirrhosis, Hyperoxaluria, Hepatomegaly OMIM:601539
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Abnormal circulating lipid concentration, Acute pancreatitis, Hepat... ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis OMIM:614924
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Hepatic steatosis, Hyperbilirubine... ORPHA:14
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia ORPHA:35
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cirrhosis, Elevated hepatic transaminase OMIM:613490
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Mildly elevated creatine kinase, Decreased plasma carnitine, Abnormality of the liver ORPHA:254864
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly OMIM:606445
Preeclampsia
Elevated circulating creatinine concentration, Elevated hepatic transaminase, Abnormality of the ... ORPHA:275555
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegal... OMIM:613327
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hepatitis, Elevated c... OMIM:614921
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Alstrom Syndrome
Elevated hepatic transaminase, Chronic active hepatitis, Hepatic steatosis, Hyperuricemia, Hepato... OMIM:203800
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated hepatic transaminase, Hepatic failure, Transient hyperlipidemia ORPHA:156
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Increased serum pyruvate, Decreased plasma carnitine, Elevated circulating creatine... OMIM:500009
Heme Oxygenase 1 Deficiency
Hepatomegaly OMIM:614034
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly OMIM:616263
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Increased circulati... ORPHA:99901
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, Jaundice, Abnormality of ... ORPHA:234
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase OMIM:614727
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Splenomegaly, Increased se... OMIM:602390
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Elevate... OMIM:603553
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice, ... OMIM:605479
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Decreased liver function, Elevated hepatic transaminase OMIM:246900
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal liver function tests during pre... OMIM:147480
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration OMIM:300752
Donohue Syndrome
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis OMIM:246200
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Hepatic steatosis, Elevated circulating glutaric acid concentration, H... OMIM:231680
3-Methylglutaconic Aciduria Type 1
Hepatomegaly ORPHA:67046
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hepatic steatosis, Reduced carnitine O-palmitoyltransferase lev... ORPHA:228308
Ddost-Cdg
Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613673
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transaminase, Hyperalani... OMIM:616974
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly OMIM:615234
Dominant Beta-Thalassemia
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice,... ORPHA:231226
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Splenomegaly OMIM:617591
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Elevated gamma-glutamyltransferase level, Pancreatic cysts, Periportal fibrosis,... ORPHA:731
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehydrogenase level, He... OMIM:231530
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly, Hyperlipidemia ORPHA:90970
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase... OMIM:613489
Pyruvate Dehydrogenase E3 Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branched chain amino a... ORPHA:2394
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Obesity
Decreased resting energy expenditure OMIM:601665
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Viral hepat... ORPHA:2137
Trichohepatoenteric Syndrome 1
Cirrhosis, Abnormality of iron homeostasis, Hypermethioninemia, Cholestasis, Hepatic fibrosis, Ja... OMIM:222470
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Hepatomegaly, De... OMIM:613280
Beta-Thalassemia Major
Cirrhosis, Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice,... ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 1
Hepatomegaly, Fulminant hepatic failure, Cholestasis OMIM:609060
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Elevated... OMIM:617713
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Niemann-Pick Disease Type B
Cirrhosis, Abnormal circulating lipid concentration, Cholelithiasis, Neoplasm of the liver, Hepat... ORPHA:77293
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Hypermethioninemia, Pancreatitis, Homocystinuria, Hyperhomocystinemia, Methion... OMIM:236200
Alpha-Heavy Chain Disease
Hepatomegaly, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Chronic pancre... ORPHA:98908
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Congenital Disorder Of Glycosylation, Type In
Hepatomegaly OMIM:612015
Seckel Syndrome 10
Hepatic steatosis, Elevated hemoglobin A1c, Elevated circulating alanine aminotransferase concent... OMIM:617253
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Jaundice, Hepatic failure, Hyperammonemia OMIM:617049
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglyceridemia... ORPHA:567548
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate OMIM:614741
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis, Elevated circulating alkal... ORPHA:52430
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly OMIM:618398
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin... OMIM:212138
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis,... ORPHA:333
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly OMIM:607685
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho... ORPHA:65682
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia, ... OMIM:151660
Crimean-Congo Hemorrhagic Fever
Jaundice, Elevated hepatic transaminase, Hepatic steatosis ORPHA:99827
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:86893
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Ascites OMIM:200995
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hyperuricemia, Hepatomegaly, Neonatal hyperbili... ORPHA:348
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Elevated hepatic transaminase, Increased blood ure... OMIM:614817
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Elevated hepatic transaminase, Enlar... OMIM:608836
Galactosemia
Cirrhosis, Elevated hepatic transaminase, Increased level of galactitol in plasma, Hypergalactose... ORPHA:352
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Hepatocel... OMIM:235200
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated hepatic transaminase, Elevated circulating sebacic acid concentration, I... OMIM:615160
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia ORPHA:28
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:610333
Bardet-Biedl Syndrome
Hepatic fibrosis ORPHA:110
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Transient aminoaciduria, Hepatic stea... OMIM:229600
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Increased serum iron, Elevated hepatic t... OMIM:604250
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Elevated he... ORPHA:210136
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cardiomegaly, Ascites ORPHA:858
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615704
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Ascites OMIM:614091
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis OMIM:263210
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice OMIM:614872
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia, Hepatomegaly, A... ORPHA:79237
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Neonatal... OMIM:618892
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hy... OMIM:608594
Nephronophthisis 3
Hepatic fibrosis OMIM:604387
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Wolman Disease
Steatorrhea, Hepatomegaly, Ascites, Hepatic failure, Splenomegaly ORPHA:75233
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Increased C-peptide level, Decreased circulating free fatty acid level, Diffuse pan... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hepatomegaly, Increased C-peptide level, Focal pancreatic i... ORPHA:276575
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia OMIM:266150
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Conjugated hyperbilirubinemia, Pancreatic fibrosis, H... OMIM:208500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly OMIM:615285
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Splenomegaly, Decreased HDL ... ORPHA:280365
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly ORPHA:98293
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Hy... OMIM:269700
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites ORPHA:2198
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia