Gene Summary

Name:
ATPase, class I, type 8B, member 1
Synonyms:
FIC1,  Ic

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 bone mineral content Atp8b1em1(IMPC)Tcp HOM Early adult 1.90×10-20
decreased bone mineral density Atp8b1em1(IMPC)Tcp HOM Early adult 1.45×10-17
small seminal vesicle Atp8b1em1(IMPC)Tcp HOM Late adult 0.00
decreased grip strength Atp8b1em1(IMPC)Tcp HOM   Early adult 6.12×10-06
decreased mean corpuscular hemoglobin Atp8b1em1(IMPC)Tcp HOM Late adult 3.84×10-07
abnormal bone structure Atp8b1em1(IMPC)Tcp HOM Early adult 6.00×10-07
abnormal bone structure Atp8b1em1(IMPC)Tcp HOM Late adult 5.82×10-09
abnormal startle reflex Atp8b1em1(IMPC)Tcp HOM Late adult 5.02×10-10
decreased mean corpuscular volume Atp8b1em1(IMPC)Tcp HOM Late adult 9.78×10-05
persistence of hyaloid vascular system Atp8b1em1(IMPC)Tcp HOM   Late adult 6.05×10-05
decreased hemoglobin content Atp8b1em1(IMPC)Tcp HOM Late adult 4.19×10-10
increased leukocyte cell number Atp8b1em1(IMPC)Tcp HOM Early adult 6.76×10-06
decreased prepulse inhibition Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
decreased erythrocyte cell number Atp8b1em1(IMPC)Tcp HOM Late adult 5.54×10-05
increased grip strength Atp8b1em1(IMPC)Tcp HOM Late adult 5.54×10-09
corneal opacity Atp8b1em1(IMPC)Tcp HOM   Early adult 2.32×10-06
decreased total body fat amount Atp8b1em1(IMPC)Tcp HOM Late adult 1.17×10-18
improved glucose tolerance Atp8b1em1(IMPC)Tcp HOM Late adult 2.14×10-11
abnormal startle reflex Atp8b1em1(IMPC)Tcp HOM Middle aged adult 4.90×10-08
anophthalmia Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating HDL cholesterol level Atp8b1em1(IMPC)Tcp HOM Late adult 4.01×10-07
increased circulating potassium level Atp8b1em1(IMPC)Tcp HOM Late adult 4.85×10-10
decreased bone mineral content Atp8b1em1(IMPC)Tcp HOM Late adult 2.38×10-16
decreased bone mineral density Atp8b1em1(IMPC)Tcp HOM Late adult 5.66×10-11
increased circulating aspartate transaminase level Atp8b1em1(IMPC)Tcp HOM Late adult 7.81×10-06
decreased fasting circulating glucose level Atp8b1em1(IMPC)Tcp HOM Late adult 4.31×10-08
enlarged spleen Atp8b1em1(IMPC)Tcp HOM Late adult 0.00
decreased hematocrit Atp8b1em1(IMPC)Tcp HOM Late adult 3.40×10-08
prolonged RR interval Atp8b1em1(IMPC)Tcp HOM Late adult 6.29×10-05
enlarged urinary bladder Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
abnormal retina blood vessel morphology Atp8b1em1(IMPC)Tcp HOM   Late adult 7.79×10-06
increased circulating bilirubin level Atp8b1em1(IMPC)Tcp HOM Late adult 1.11×10-05
abnormal pancreas morphology Atp8b1em1(IMPC)Tcp HOM Late adult 0.00
long tibia Atp8b1em1(IMPC)Tcp HOM Early adult 5.57×10-05
increased lean body mass Atp8b1em1(IMPC)Tcp HOM Late adult 8.49×10-22
decreased heart rate Atp8b1em1(IMPC)Tcp HOM Late adult 9.44×10-06
abnormal eye morphology Atp8b1em1(IMPC)Tcp HOM Late adult 0.00
abnormal liver morphology Atp8b1em1(IMPC)Tcp HOM Late adult 0.00
abnormal auditory brainstem response Atp8b1em1(IMPC)Tcp HOM   Early adult 1.22×10-09
decreased heart weight Atp8b1em1(IMPC)Tcp HOM Late adult 2.93×10-06
decreased circulating triglyceride level Atp8b1em1(IMPC)Tcp HOM Late adult 9.00×10-22
decreased hematocrit Atp8b1em1(IMPC)Tcp HOM Early adult 2.92×10-05
decreased startle reflex Atp8b1em1(IMPC)Tcp HOM Early adult 6.12×10-05
polycystic kidney Atp8b1em1(IMPC)Tcp HOM Late adult 0.00
decreased hemoglobin content Atp8b1em1(IMPC)Tcp HOM Early adult 1.57×10-05
increased circulating alanine transaminase level Atp8b1em1(IMPC)Tcp HOM Late adult 2.41×10-05
abnormal epididymis morphology Atp8b1em1(IMPC)Tcp HOM Late adult 0.00
enlarged kidney Atp8b1em1(IMPC)Tcp HOM Late adult 0.00
increased circulating alkaline phosphatase level Atp8b1em1(IMPC)Tcp HOM Late adult 4.10×10-08
long tibia Atp8b1em1(IMPC)Tcp HOM Late adult 4.81×10-05
small seminal vesicle Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
increased lean body mass Atp8b1em1(IMPC)Tcp HOM   Early adult 2.41×10-05
decreased exploration in new environment Atp8b1em1(IMPC)Tcp HOM Late adult 4.82×10-24
abnormal optic disk morphology Atp8b1em1(IMPC)Tcp HOM   Late adult 2.07×10-05
abnormal retina vasculature morphology Atp8b1em1(IMPC)Tcp HOM   Late adult 8.18×10-06
decreased erythrocyte cell number Atp8b1em1(IMPC)Tcp HOM   Early adult 9.51×10-05
polycystic kidney Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
decreased circulating glucose level Atp8b1em1(IMPC)Tcp HOM Late adult 4.63×10-17
decreased exploration in new environment Atp8b1em1(IMPC)Tcp HOM Middle aged adult 9.99×10-12
abnormal startle reflex Atp8b1em1(IMPC)Tcp HOM   Early adult 9.86×10-05

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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.

Eye Morphology

Images Slit Lamp

24 Images

Eye Morphology

Images Ophthalmoscopy

93 Images

Gross Pathology and Tissue Collection

Images

12 Images

Eye Morphology

Images Ophthalmoscopy

105 Images

Eye Morphology

Images Slit Lamp

121 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

31 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

5 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Human diseases caused by Atp8b1 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 Atp8b1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Atp8b1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Hypervalinemia And Hyperleucine-Isoleucinemia
Hypervalinemia, Hyperleucinemia, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:618850
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Biliary Atresia, Extrahepatic
Cirrhosis, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Glycogen Storage Disease Vi
Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic tr... OMIM:232700
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... OMIM:605814
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure, Unconjugated ... OMIM:143500
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom... OMIM:616278
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, J... OMIM:235555
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Rotor Syndrome
Jaundice, Abnormal circulating enzyme concentration or activity, Hyperbilirubinemia, Intermittent... ORPHA:3111
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Bile Acid Conjugation Defect 1
Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h... OMIM:619232
Edinburgh Malformation Syndrome
Failure to thrive, Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor... OMIM:614480
Combined Low Ldl And Fibrinogen
Decreased LDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr... OMIM:620364
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin... OMIM:619256
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase co... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Jaundice, Splenomegaly, Hepatomegaly OMIM:237800
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, ... OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:619484
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic cholestasis, ... OMIM:214950
Galactosemia Iv
Prolonged neonatal jaundice, Hypergalactosemia, Hepatomegaly OMIM:618881
Malaria
Acute kidney injury, Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubi... ORPHA:673
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Flattened femoral head, Delayed femoral head ossificati... ORPHA:168621
Phosphoserine Phosphatase Deficiency
Hyposerinemia, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Increased circulating lactate dehydrogenase concentration, Elevated circulating hepatic transamin... OMIM:310490
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Ascites, Poly... OMIM:174050
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hy... ORPHA:570422
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Eleva... OMIM:616860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, N... OMIM:608836
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Hyperalaninemia, El... OMIM:619048
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia... OMIM:614300
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Reduced red cell pyruvate kina... OMIM:266200
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Postnatal growth retardation, Jaundice, Intrahepatic cholestasis, Eleva... OMIM:617093
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease ORPHA:2924
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Hypera... OMIM:617049
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic sy... OMIM:269920
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami... ORPHA:30391
Odontochondrodysplasia 1
Nephronophthisis, Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of... OMIM:184260
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Intention tremor, Erlenmeyer flask deformity of the femurs, Spl... OMIM:610539
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ... ORPHA:234
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Clubbing, Flared iliac wing, Bone marrow hypocellularity, Leukopenia, Splenomega... OMIM:617303
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H... OMIM:617156
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia... OMIM:614702
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Heart murmur, Optic n... OMIM:614866
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, E... OMIM:232220
Winchester Syndrome
Carpal osteolysis, Corneal opacity, Broad metacarpals, Generalized osteoporosis, Osteolysis invol... OMIM:277950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced erythrocyte hexokinase activi... OMIM:235700
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Short stature, Failure to thrive, Splenomegaly ORPHA:172
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu... OMIM:613673
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Low-set ... OMIM:613885
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia,... OMIM:214110
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Gracile Syndrome
Increased serum pyruvate, Cholestasis, Increased circulating iron concentration, Intrauterine gro... OMIM:603358
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, F... OMIM:608776
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Neonatal hyperbilirubinemia,... ORPHA:3363
H Syndrome
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Abnormal cardi... ORPHA:168569
Glycogen Storage Disease Xii
Delayed puberty, Jaundice, Reduced haptoglobin level, Hepatomegaly, Cholelithiasis, Decreased ery... OMIM:611881
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine, Hype... ORPHA:228308
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu... OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg... OMIM:602347
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Decreased beta-galact... OMIM:230350
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Myoglobinuria, Polycys... ORPHA:157
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubinemia, Increased c... OMIM:618892
Femoral-Facial Syndrome
Abnormal fibula morphology, Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Mi... ORPHA:1988
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Neonatal hypoglycemia, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating he... OMIM:212138
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Hepatomegaly, Bradycardia, Decreased circulating carnitine concentration, Cardiac a... OMIM:618235
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia, Hepatomegaly, Microcornea, Corneal opacity ORPHA:2432
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin ORPHA:3319
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc... ORPHA:69665
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fi... ORPHA:79259
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Congestive heart failure, Glutaric aciduria, Hepatomegaly, Elevated cir... ORPHA:26791
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating... OMIM:613027
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, F... OMIM:232200
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Anemia, Increased bone mineral densi... OMIM:620366
Tyrosinemia, Type I
Enlarged kidney, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentra... OMIM:276700
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Elevated circulating hepatic tr... OMIM:619902
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c... OMIM:613752
Wolcott-Rallison Syndrome
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Hyperammonemia, ... ORPHA:1667
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Osteopenia, Hyperinsulinemia, Hepatomegaly, Prolonged QT interval, Elevated... OMIM:613327
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration OMIM:602114
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Macular dystrophy, Progressive psychomotor deterioration, Abnormal retinal morph... ORPHA:251004
Osteopetrosis, Autosomal Recessive 5
Ascites, Splenomegaly, Optic atrophy, Irritability, Cranial hyperostosis, Pancytopenia, Hypocalce... OMIM:259720
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa... OMIM:614859
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, Co... ORPHA:294
Mirage Syndrome
Rocker bottom foot, Leukopenia, Lymphopenia, Hypospadias, Hyponatremia, Radial club hand, Recurre... OMIM:617053
Glycogen Storage Disease Iv
Cirrhosis, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Ascites, Portal hypertension... OMIM:232500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycy... OMIM:610199
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Increased tota... OMIM:616299
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Aceruloplasminemia
Cognitive impairment, Aceruloplasminemia, Decreased circulating iron concentration, Decreased cir... ORPHA:48818
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hyperbilirubinemia, Increased ... OMIM:224120
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal femur morphology, Abnormal spleen morphology, Lymphangioma, Epistaxis, ... ORPHA:464329
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Mulibrey Nanism
Short stature, Cachexia, Hepatomegaly, Intrauterine growth retardation ORPHA:2576
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Increased total iron binding capacity, Elevated circulating ... OMIM:613280
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:400
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Hepatomegaly, Thrombocytopenia ORPHA:1980
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating aldolase concentration, Reduced mus... OMIM:232800
Roberts Syndrome
Clitoral hypertrophy, Radial deviation of finger, Mesomelic arm shortening, Proximal placement of... ORPHA:3103
Spherocytosis, Type 1
Hyperbilirubinemia, Jaundice, Splenomegaly, Cholelithiasis OMIM:182900
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase ... OMIM:620357
Fanconi-Bickel Syndrome
Postnatal growth retardation, Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid c... OMIM:227810
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:615160
Wilson Disease
Portal fibrosis, Ascites, Limb dystonia, Acute hepatic failure, Splenomegaly, High nonceruloplasm... OMIM:277900
Distal Triplication 15Q
Large for gestational age, Abnormality of the kidney, Cupped ear, Polycystic kidney dysplasia, Ab... ORPHA:314588
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Sialidosis Type 2
Hepatomegaly, Tremor, Corneal opacity, Osteoporosis, Hearing impairment, Splenomegaly, Flexion co... ORPHA:87876
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Hypomethioninemia, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cyst... OMIM:277400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Joint stiffness, Bone marrow hypocellularity, Abnormal heart morphology, Leukope... ORPHA:505248
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Congenital diaphragmatic hernia, Periportal fibrosis, Polycystic ki... OMIM:263210
Beta-Thalassemia
Irritability, Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Reduced bone... ORPHA:848
Bardet-Biedl Syndrome 16
Polydactyly, External genital hypoplasia, Renal cyst, Cognitive impairment, Renal agenesis, Retin... OMIM:615993
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity, Decreased circulating cortisol level, Cholestasis OMIM:609734
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Trisomy 13
Optic atrophy, Microphthalmia, Anophthalmia, Abnormal antihelix morphology, Sensorineural hearing... ORPHA:3378
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem... ORPHA:3202
Hyperbiliverdinemia
Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis OMIM:614156
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Elevated circulat... OMIM:618775
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat... ORPHA:231222
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Growth delay, Splenomegaly, Weight loss ORPHA:79238
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... OMIM:206920
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Obesity, Hypogonadism, Renal insufficiency OMIM:615987
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu... OMIM:613313
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Osteolysis involving bones of the lo... ORPHA:464321
Wolman Disease
Hepatomegaly, Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, S... OMIM:620151
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Jaundice, Hepatomega... OMIM:267700
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Corneal opacity, Synostosis of ca... ORPHA:2741
Relapsing Fever
Acute kidney injury, Jaundice, Hematuria, Anemia, Elevated circulating C-reactive protein concent... ORPHA:91547
Mody
Hepatocellular adenoma, Retinopathy, Transient neonatal diabetes mellitus, Elevated hemoglobin A1... ORPHA:552
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Elevated circulating creatinine concentration, Jaundice, Hepatomegaly, Hy... OMIM:613095
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Idiopathic Congenital Hypothyroidism
Bradycardia, Delayed proximal femoral epiphyseal ossification, Prolonged neonatal jaundice, Neona... ORPHA:95717
Mucolipidosis Type Iii
Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Large ilia... ORPHA:577
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Caroli Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Intrahepatic choles... ORPHA:480520
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia, Growth delay, Short stature, Spl... OMIM:261750
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Renal Hypoplasia, Bilateral
Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Hypertension, ... ORPHA:97362
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating hepatic transaminase c... ORPHA:14
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased circulating... OMIM:278000
Spherocytosis, Type 4
Hyperbilirubinemia, Jaundice, Splenomegaly OMIM:612653
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite... OMIM:615710
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia, Elevated c... OMIM:619685
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:615158
Timothy Syndrome
Prolonged QT interval, Bradycardia, Hypocalcemia, Patent foramen ovale, Ventricular septal defect... OMIM:601005
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, Sensorineural heari... ORPHA:139471
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu... OMIM:271530
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Intrahepatic ... OMIM:208085
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metacarpal osteolysis, Carpal osteolysis, Ulnar deviation of the hand or of fingers o... OMIM:166300
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hyperbilirubinemia, Decr... OMIM:614886
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa... ORPHA:75234
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega... OMIM:607616
Protoporphyria, Erythropoietic, X-Linked
Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con... OMIM:300752
Cog7-Cdg
Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concentration, ... ORPHA:79333
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, Splenomegaly OMIM:185000
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Sandal gap, Premature ventricular contraction, Umbilica... OMIM:300855
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am... OMIM:614727
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Bradycardia, Impaired glucos... OMIM:614407
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart failure, Irritabili... ORPHA:231226
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Jaundic... OMIM:614887
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Hypoplastic pelvis, P... OMIM:208500
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Depression, Impaired glucose tolerance, Type II diabetes mellitus, Diabetes mellit... OMIM:614296
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Isosexual precocious puberty, Microphthalmia, Abnormal femoral neck/head morphology, ... ORPHA:2788
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s... OMIM:252500
Lathosterolosis
Bilobate gallbladder, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Intrahepatic ch... OMIM:607330
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortic... ORPHA:231169
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopath... OMIM:618815
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:158
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Rhyns Syndrome
Osteopenia, Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, H... ORPHA:140976
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Retinal dystrophy, Myoglobinuria, Hyperbilirubinemia, Tremor, Reticulocytosis, Decreased hemoglob... ORPHA:713
Hardikar Syndrome
Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, I... OMIM:301068
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Hepatomegaly, Anemia, Sensorineural hearing impai... ORPHA:290
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopeni... OMIM:603553
Beta-Thalassemia Major
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con... ORPHA:231214
Senior-Boichis Syndrome
Tubular luminal dilatation, Elevated circulating hepatic transaminase concentration, Hypertension... ORPHA:84081
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Ascites, Cognitive impai... ORPHA:731
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Cockayne Syndrome Type 1
Optic atrophy, Abnormality of peripheral nerve conduction, Hepatomegaly, Anemia, Foot joint contr... ORPHA:90321
Sickle Cell Anemia
Reticulocytosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, ... ORPHA:232
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma OMIM:611638
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
D-Glyceric Aciduria
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Optic ner... OMIM:220120
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Polycystic kidney dyspl... OMIM:145001
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, External genital hypoplasia, Renal cyst, Obesity, Syndact... OMIM:615982
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance,... OMIM:606069
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Failure to thr... ORPHA:79312
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Retinal degeneration, Bradycardia OMIM:617173
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Mildly elevated creatine kinase, Bradycardia OMIM:620265
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Preaxial polydactyly, Polycystic kid... OMIM:613091
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating hepatic transaminase concentration, Oculogyric crisis,... ORPHA:94093
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, ... ORPHA:2169
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Impaired glucose tol... OMIM:610947
Hemochromatosis, Type 1
Congestive heart failure, Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, ... OMIM:235200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Ketotic hypoglycemia, Cardiomyopathy, Ethylmalonic aciduria, Failure to thrive, In... ORPHA:26792
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normochromic anemia, Hypertension, Cardiomyopathy, Cognitive impairm... ORPHA:247691
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Small for gestational age, Short attention span, Osteoporosis, Fa... ORPHA:73272
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Optic nerve hypoplasia, Corneal opacity, Leukopenia, Craniosynostosis, Coxa v... OMIM:301056
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Spherocytosis, Type 2
Hyperbilirubinemia, Jaundice, Splenomegaly OMIM:616649
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Multiple renal cysts, Spl... ORPHA:116
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypospadias, Polycystic kidney dysplasia, Short long bone, Flat acetabular roof, Bow... OMIM:614091
Alpha-Mannosidosis
Chronic otitis media, Hepatomegaly, Craniofacial hyperostosis, Arthritis, Abnormal helix morpholo... ORPHA:61
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Cholestasis, Intrahepatic, Of Pregnancy 3
Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abn... OMIM:614972
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Multiple suture cra... ORPHA:567
Galactosemia I
Increased level of galactitol in red blood cells, Decreased liver function, Cirrhosis, Hepatomega... OMIM:230400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly OMIM:609016
Syndromic Diarrhea
Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Aortic regurgitation... ORPHA:84064
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Elevate... ORPHA:186
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... ORPHA:811
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect, Cryptorchidism,... OMIM:249270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Hematuria, Sensorineural hearing impairment, Corneal opacity, Post... ORPHA:1473
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera... ORPHA:2470
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter... ORPHA:168558
Familial Thyroid Dyshormonogenesis
Bradycardia, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphysea... ORPHA:95716
Graft Versus Host Disease
Irritability, Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:39812
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, T... OMIM:557000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Megaloblastic Anemia, Folate-Responsive
Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Increased circulat... OMIM:601775
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, H... ORPHA:98870
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Arima Syndrome
Tubulointerstitial fibrosis, Hypertension, Renal sodium wasting, Stage 5 chronic kidney disease, ... OMIM:243910
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter... ORPHA:289548
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia OMIM:615524
Necrotizing Enterocolitis
Shock, Abnormal glucose homeostasis, Bradycardia, Ascites, Leukocytosis, Hypotension, Hyponatremi... ORPHA:391673
Reynolds Syndrome
Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Stea... OMIM:613471
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Arrhyt... ORPHA:57
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Galactosialidosis
Hearing impairment, Corneal opacity ORPHA:351
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Hematuria, Anemia, Increased mean corpuscular volume, Hypertension, Ven... OMIM:617021
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia OMIM:268150
Squalene Synthase Deficiency
Irritability, Hypospadias, Knee flexion contracture, Slender long bone, Optic nerve hypoplasia, I... OMIM:618156
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Depression, Abnormal circulating thyroglobulin concentration, Pituitary hypothyroidi... ORPHA:90674
Trisomy 17P
Clinodactyly of the 5th finger, Hypoplasia of penis, Polycystic kidney dysplasia, Low-set ears, H... ORPHA:261290
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Polycystic kidney dysplasia, 2-3 toe syndactyly, Micromelia, ... OMIM:617866
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Femoral bowing, Ch... OMIM:615415
Addison Disease
Renal salt wasting, Hyperkalemia, Normocytic anemia, Primary testicular failure, Orthostatic hypo... ORPHA:85138
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Short stature, Hepatosplenomegaly, Splenomegaly... OMIM:612526
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Decreased circulating cortisol level, Abnormal l... ORPHA:90791
Hijazi-Reis Syndrome
Postnatal growth retardation, Hyperbilirubinemia OMIM:301094
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit... ORPHA:131
Birk-Landau-Perez Syndrome
Hyperkalemia, Optic atrophy, Stage 3 chronic kidney disease, Hypertension, Renal hypoplasia, Dyst... OMIM:617595
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Cardi... OMIM:212065
Aicardi-Goutieres Syndrome 9
Elevated circulating hepatic transaminase concentration, Hypertension, Ascites, Pericarditis, Lef... OMIM:619487
Marburg Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Bradycardia, Reticulocytosis, Hyperammon... ORPHA:99826
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Depression, Neurogenic bladder, Decreased body weight, Elevated circulating creati... ORPHA:96180
Branchiootorenal Syndrome 1
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Mixed hearing imp... OMIM:113650
Leprechaunism
Enlarged kidney, Clitoral hypertrophy, Nephrocalcinosis, Hyperaldosteronism, Labial hypertrophy, ... ORPHA:508
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Spherocytosis, Hypoch... ORPHA:71275
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Hereditary Elliptocytosis
Postnatal growth retardation, Jaundice, Cholelithiasis, Hyperbilirubinemia, Prolonged neonatal ja... ORPHA:288
Wolfram-Like Syndrome
Optic atrophy, Male hypogonadism, Glucose intolerance, Depression, Peripheral axonal neuropathy, ... ORPHA:411590
Sepsis In Premature Infants
Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein... ORPHA:90051
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev... OMIM:619481
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c... OMIM:500009
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy ORPHA:95433
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Microcornea, Bilateral sensorineural hearing impairment, Coronal ... OMIM:616943
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv... ORPHA:99827
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Hammertoe, Talipes equinovarus, Abnormal liver... OMIM:608022
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hyperalaninemia, Bradycardia, Left ventricular hypertrophy OMIM:614654
Alg12-Cdg
Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Proximal pla... ORPHA:79324
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Reduced bone mineral density, Bone marrow hypocellulari... OMIM:617052
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia, Flexion contracture OMIM:617562
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Bowing of the long bones, Polysplenia OMIM:211890
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Hypot... ORPHA:85445
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Hypertrophic cardiomyopathy, Dystonia, Ventricular septal defect, Elevated urine 2,3... OMIM:616277
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he... ORPHA:275761
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Portal fibrosis, Elevated circulating hepatic trans... ORPHA:264580
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Tetanus
Stiff neck, Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norep... ORPHA:3299
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal thumb morphology, Anemia, Sensorineural hearing impairment, Athetosis, Corneal opacity, ... ORPHA:2719
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Sho... OMIM:618641
Meckel Syndrome 14
Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Postaxial hand polydactyly, B... OMIM:619879
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Atrial septal defect, Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, ... ORPHA:163979
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl... OMIM:613490
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase... OMIM:613658
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Hypertension, Prol... OMIM:210710
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Radial deviation of finger, Syndactyly, Splenomegaly, Clinodactyly, Cy...