Gene Summary

Name:
complement component 3
Synonyms:
complement factor 3,  acylation stimulating protein,  Plp

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.

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Brain  Section images heterozygote 50% (1 of 2)
Brainstem  Section images heterozygote 50% (1 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
White adipose tissue  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 100% (1 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote Not available
Tail N/A heterozygote Not available

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Section

12 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

Auditory Brain Stem Response

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

8 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Human diseases caused by C3 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 C3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:613779
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria, Stage 5 chronic k... OMIM:612925

The table below shows human diseases predicted to be associated to C3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent viral infections, Recurrent protozoan infections, Recurrent bacterial infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent herpes, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept... OMIM:617885
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent in... OMIM:300635
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Glycoprotein Storage Disease
Gout OMIM:232900
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Hypercholestero... OMIM:619868
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Large for gestational age, Diffuse pancreatic... ORPHA:276575
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Va... OMIM:308240
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... ORPHA:54370
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Nephrotic syndrome, Proteinu... OMIM:617006
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Large for gestational age, Diffuse pancreatic islet hyperplasia... ORPHA:276556
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h... ORPHA:276580
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Polyphagia OMIM:620195
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Increased circulat... ORPHA:158057
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Decreased body weight, Increased... OMIM:620085
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L... ORPHA:2457
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism OMIM:614962
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota... ORPHA:98848
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Leukopenia,... ORPHA:64743
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proport... ORPHA:98850
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, Ski... ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Skin ras... OMIM:603552
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con... OMIM:618400
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Hepatic ste... OMIM:608709
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer... OMIM:619874
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol ... OMIM:222100
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Increased circulating lactate dehydrogenase conce... ORPHA:158061
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ... ORPHA:444463
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... OMIM:613779
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infecti... OMIM:209920
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... OMIM:275000
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infections, Pancytopeni... OMIM:614470
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Talo-Patello-Scaphoid Osteolysis
Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaphoids ORPHA:50809
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent infections, Thrombocytopeni... OMIM:615285
Immunodeficiency 61
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:300310
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple... OMIM:614480
Hemochromatosis, Type 3
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Arthritis, Cardiomyop... OMIM:604250
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant ce... ORPHA:79303
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Ch├ędiak-Higashi Syndrome
Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent... ORPHA:167
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased circulating... OMIM:278000
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decrea... ORPHA:79085
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans... ORPHA:100093
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Elevated circulating h... ORPHA:540
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis, Autoimmunity OMIM:216950
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Protein-losing enteropathy, Decreased circula... OMIM:613502
Proprotein Convertase 1/3 Deficiency
Diarrhea, Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circ... OMIM:600955
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Splenomegaly, Paralytic ileus, Intraalveolar phospholipid accumulation, Neutrophili... OMIM:620565
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:616829
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of th... ORPHA:47
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... ORPHA:97279
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... OMIM:616860
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Sever... ORPHA:319552
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Rotor Syndrome
Jaundice, Abnormal circulating enzyme concentration or activity, Hyperbilirubinemia, Intermittent... ORPHA:3111
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent bacterial infections, Partial ab... OMIM:240500
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase conc... ORPHA:400
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue aroun... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased serum leptin, Increased C-peptide level, Lipodystrophy, Decreased... OMIM:615238
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ... ORPHA:33110
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:2137
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr... OMIM:613500
Short Stature Due To Ghsr Deficiency
Delayed puberty, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like ... ORPHA:314811
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Hypercholanemia, Familial, 2
Osteopenia, Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hy... OMIM:619256
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Hip osteoarthritis... OMIM:105835
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Chro... ORPHA:158048
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... OMIM:232700
Trimethylaminuria
Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Chilblains, Hepatosplenomegaly, Proteinuria, ... OMIM:619858
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T... ORPHA:254516
C3 Glomerulopathy
Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Mesangial hypercellularity, Chro... ORPHA:329918
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase... OMIM:607765
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi... ORPHA:98849
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Recurrent infection of the gastrointestin... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Abnormal intestine morphology, Splenomeg... ORPHA:37042
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the eye, Jau... ORPHA:39812
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating lactate dehydrogenase concentration, Granuloma, Splen... OMIM:619802
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia... OMIM:614300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Immunodeficiency 32B
BCGitis, Hepatomegaly, Anemia, Recurrent infections, Abnormal circulating IgG level, Bronchiectas... OMIM:226990
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Loss of gluteal ... OMIM:604367
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Ileus, Arthritis, Decreased FOXP3-expressing T cell cou... OMIM:304790
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,... OMIM:605814
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Decreased circulating carnitine conce... OMIM:201475
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen... OMIM:235555
Congenital Enterovirus Infection
Myocarditis, Sepsis, Neutropenia, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis,... ORPHA:292
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circ... ORPHA:381
Harderoporphyria
Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Spl... OMIM:618892
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Relapsing Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulating C... ORPHA:91547
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Confusion, Meningitis, Mental deterioration OMIM:617900
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah... ORPHA:480520
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Iron deficiency ... ORPHA:1667
Whim Syndrome 2
Recurrent gingivitis, Chronic neutropenia, Severe infection OMIM:619407
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Steatorrhea, Biliary cirrhosis, Onychomycosis, Splenome... ORPHA:186
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopeni... OMIM:618986
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Avian Influenza
Congestive heart failure, Sepsis, Elevated circulating hepatic transaminase concentration, Myelit... ORPHA:454836
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose t... ORPHA:435651
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Inc... ORPHA:2924
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent... OMIM:615214
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Skin rash, Hypopro... OMIM:603553
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:890
14Q11.2 Microduplication Syndrome
Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Increased circulating ferritin concentration, Elevated circulating ... ORPHA:101330
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating ... OMIM:232800
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R... OMIM:619220
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Elevated circulating creatinine concentr... ORPHA:36234
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
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
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Hemophagoc... OMIM:267700
Huntington Disease
Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Abnormal circulating cholesterol... ORPHA:399
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Confusion, Meningitis, Mental deterioration OMIM:613002
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... OMIM:301078
Mody
Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H... ORPHA:552
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hepatosplenomegaly, Colon... OMIM:618999
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio... OMIM:143500
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, High palate, Splenome... OMIM:269920
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... OMIM:243150
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Diarrhea, Vomiting, Failure to thrive, Hypoglycemia OMIM:606528
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Recurrent bacterial infections, Disseminated nontuberculous myc... OMIM:300636
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c... ORPHA:567548
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c... ORPHA:331206
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Patent Ductus Venosus
Decreased liver function, Persistent patent ductus venosus, Hypergalactosemia, Hyperammonemia, Co... OMIM:601466
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Steatorrhea, Elevated circulating hepatic transaminase concentration, Abnormal immunoglobulin lev... OMIM:618752
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegaly, Retinal ... ORPHA:294
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ... OMIM:616828
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati... ORPHA:829
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Intermittent thro... OMIM:616740
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta, Hyperactivity, Severe intrauterine growth retardation, Short attention span, Hypo... ORPHA:73272
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ... OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
C1Q Deficiency 3
Recurrent bacterial meningitis, Neonatal omphalitis, Discoid lupus rash, Antinuclear antibody pos... OMIM:620322
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:620357
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly OMIM:162830
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Osteoarthritis, Arrhythmia, Elevated transferrin... OMIM:606069
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Reduced bone mineral densi... ORPHA:848
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Hyperalaninemia, Elevated circulating alanin... OMIM:619048
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:616873
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Low neutrophil alkaline phosphatase, Hyposegme... OMIM:245480
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Diarrhea, Polyphagia, Central hypothyroidism, Failure to thr... ORPHA:95427
Aspergillosis
Invasive pulmonary aspergillosis, Increased circulating IgE level, Meningitis, Abnormal esophagus... ORPHA:1163
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated circulating creatine kinase concentration, Elevated serum transamin... OMIM:611182
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:300972
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen... ORPHA:398124
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Congestive heart failure, Hepatomegaly, Elevated circulating hepatic tr... ORPHA:26791
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp... OMIM:615387
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Nausea, Repetitive compulsive behavi... ORPHA:33543
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Recurrent respiratory i... OMIM:615207
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase... OMIM:615703
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegal... ORPHA:79312
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Schaaf-Yang Syndrome
Gastroesophageal reflux, Polyphagia, Impulsivity, Camptodactyly, Constipation, Skin-picking, Obes... OMIM:615547
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome... ORPHA:79477
Bile Acid Conjugation Defect 1
Rickets, Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Con... OMIM:619232
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia ORPHA:289916
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co... ORPHA:33402
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... ORPHA:2688
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Polycystic li... OMIM:174050
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:615895
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Increased circulating lactate dehydrogenase con... OMIM:613673
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating he... ORPHA:264580
Crigler-Najjar Syndrome
Cognitive impairment, Infectious encephalitis, Memory impairment ORPHA:205
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Bradycardia, P... OMIM:616299
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nep... OMIM:104200
Placental Insufficiency
Abnormal placenta morphology, Small placenta, Antiphospholipid antibody positivity, Abnormal umbi... ORPHA:439167
Sepsis In Premature Infants
Decreased liver function, Neonatal sepsis, Bradycardia, Splenomegaly, Neutropenia, Jaundice, Incr... ORPHA:90051
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphade... OMIM:619644
Felty Syndrome
Chronic otitis media, Sinusitis, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Osteoly... ORPHA:47612
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:161900
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Lipodystrophy OMIM:246650
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Dysmenorrhea, Attention deficit hyperactivity disorder, Oligohydramnios, Intraute... ORPHA:397590
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced red cell pyruvate kinase level, Cholelithiasis, Chronic hemolytic... OMIM:266200
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorma... ORPHA:369840
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat... ORPHA:3202
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom... OMIM:614377
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Diarrhea, Increased circulating free fatty acid level, Vomiting, Hypophosphatemia, H... OMIM:605911
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Osteopenia, Hepatomegaly, Elevated circulating hepatic transaminase concent... OMIM:613327
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi... ORPHA:905
Legionnaires Disease
Myocarditis, Sepsis, Jaundice, Pancreatitis, Lymphadenopathy, Recurrent pharyngitis, Hypotension,... ORPHA:549
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Polyp... OMIM:606407
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti... OMIM:615573
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... OMIM:619013
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypertension, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic st... OMIM:619573
Immunodeficiency 110 With Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo... OMIM:614868
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concen... OMIM:617872
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin... OMIM:613313
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Polyphagia, Reduced subcutaneous ... OMIM:608594
Poikiloderma With Neutropenia
Recurrent otitis media, Skin rash, Elevated circulating creatine kinase concentration, Recurrent ... OMIM:604173
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... ORPHA:811
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Mesangial hypercellularity, Crescentic glomerulonephritis OMIM:616414
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Sepsis, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Patent ... OMIM:617303
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue carnitine O... ORPHA:228305
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Generalized osteoporosis, Lymphopenia, Recurrent Aspergillus infec... ORPHA:391487
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Recurrent sinusitis, Increased circulating IgG level, Decreased circulati... ORPHA:98813
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Immunodeficiency 40
Chronic oral candidiasis, Rectal fistula, Hepatomegaly, Macrovesicular hepatic steatosis, Recurre... OMIM:616433
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Diarrhea, Vomiting, Failure to thrive, Increased circulating free fatty... OMIM:610768
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Sepsis, Hepatomegaly, Recurrent ot... OMIM:612783
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Lymphadenopathy, Recurrent aphthous stomatitis, Recurrent infections, B... OMIM:150550
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Lymph node hypoplasia, Splenomegaly, Increased circulating guanosine concentration, Ly... OMIM:613179
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthritis, Arthropathy, Wrist flexion contracture, Generalized morni... OMIM:208250
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Spider hemangioma, Adenocarcinoma of the... ORPHA:171
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Recurrent infections, Neutropenia in presence of anti-neutr... ORPHA:228426
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concen... ORPHA:99901
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Microvesic... OMIM:212140
Asherman Syndrome
Abnormal placenta morphology, Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Ab... ORPHA:137686
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglyce... ORPHA:35878
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase con... ORPHA:26793
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Abnormal circul... ORPHA:48435
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia, Reduced glutathione synthetase level OMIM:266130
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Chronic oral candidiasis, Hepatosp... ORPHA:911
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurren... ORPHA:397596
Sickle Cell Anemia
Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Unconjugated hyperbil... ORPHA:232
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splen... OMIM:619381
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Menin... OMIM:614379
Ebola Hemorrhagic Fever
Sepsis, Gastrointestinal hemorrhage, Increased circulating antibody level, Melena, Acute pancreat... ORPHA:319218
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased methionine synthase activity, Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopeni... OMIM:277380