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 0.55% (3 of 541)
aorta 0.0%
brain 0.56% (3 of 531)
brainstem 0.37% (2 of 538)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 534)
cerebellum 0.56% (3 of 538)
cerebral cortex 0.37% (2 of 541)
epididymis 12.8% (16 of 125)
esophagus 1.91% (7 of 366)
eye 0.0%
heart 0.37% (2 of 545)
hippocampus 0.55% (3 of 544)
hypothalamus 0.38% (2 of 533)
kidney 3.33% (18 of 540)
large intestine 1.83% (10 of 545)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 541)
lymph node 0.19% (1 of 537)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.19% (1 of 531)
ovary 0.18% (1 of 544)
oviduct 0.0%
pancreas 0.73% (4 of 546)
peripheral nervous system 0.37% (2 of 535)
peyers patch 0.0%
pituitary gland 0.18% (1 of 542)
prostate gland 2.21% (12 of 544)
skeletal muscle 0.0%
skin 0.19% (1 of 537)
small intestine 1.64% (9 of 548)
spinal cord 0.56% (3 of 536)
spleen 0.56% (3 of 536)
stomach 2.24% (12 of 536)
striatum 0.56% (3 of 535)
submandibular gland 1.59% (2 of 126)
testis 0.92% (5 of 544)
thalamus 0.0%
thymus 0.0%
thyroid gland 2.93% (16 of 546)
trachea 0.56% (3 of 535)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
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 1.05% (5 of 475)
dorsal root ganglion 1.69% (1 of 59)
ear 0.21% (1 of 479)
embryo 0.21% (1 of 474)
eye 0.21% (1 of 467)
footplate 0.21% (1 of 479)
forebrain 0.21% (1 of 471)
forelimb 0.21% (1 of 471)
fronto-nasal process 1.72% (1 of 58)
handplate 0.21% (1 of 469)
head 1.04% (5 of 479)
heart 0.22% (1 of 461)
hindbrain 1.27% (6 of 471)
hindlimb 0.21% (1 of 476)
liver 0.21% (1 of 470)
lung 0.21% (1 of 466)
mandibular process 0.21% (1 of 480)
maxillary process 0.22% (1 of 462)
midbrain 0.21% (1 of 469)
nose 1.39% (1 of 72)
oral cavity 0.21% (1 of 466)
skin 0.21% (1 of 482)
spinal cord 0.0%
tail 0.21% (1 of 470)
tail somite group 0.21% (1 of 476)

Associated Images

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

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

12 Images

Sleep Wake

Wake state (bmp file)

15 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 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
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Acute kidney injury, Anuria, Hematuria, Proteinuria 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 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
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
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 53
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections OMIM:617585
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Type II dia... ORPHA:71529
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Monocyte and dendritic cell deficiency, autosomal recessive
Recurrent infections OMIM:614894
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Tuftsin Deficiency
Recurrent infections OMIM:191150
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Neo... ORPHA:324575
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... ORPHA:71526
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Glycoprotein Storage Disease
Gout OMIM:232900
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Osteoarthritis Susceptibility 3
Osteoarthritis, Joint stiffness, Osteoarthritis of the distal interphalangeal joint, Osteoarthrit... OMIM:607850
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Recurrent infections, Recurrent skin ... OMIM:300635
Agammaglobulinemia 3, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Recurre... OMIM:613501
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Abnormal glomerular mesangium morphology, Proteinuria, G... ORPHA:567544
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatic failure, Colon c... ORPHA:158057
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Colitis, Minimal change glomer... OMIM:617006
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypogonadism OMIM:614962
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Increased C-peptide level, Excessive insulin re... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Immunodeficiency 32A
Recurrent infections OMIM:614893
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Obesity,... ORPHA:179494
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Increased subcutaneous truncal adipos... ORPHA:2457
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Hypoglycemic seizures, Obesity, Adrenal hypoplasi... OMIM:609734
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Aplastic anemia, Lymphocytosis, T... OMIM:308240
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Frequent Giardia lamblia infestation, Rec... OMIM:300310
Macrosomia Adiposa Congenita
Large for gestational age, Polyphagia, Obesity, Adrenocortical adenoma OMIM:248100
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Elevated total serum tryptase, Maculopapular exanthe... ORPHA:98848
Aggressive Systemic Mastocytosis
Pancytopenia, Gastrointestinal hemorrhage, Elevated total serum tryptase, Maculopapular exanthema... ORPHA:98850
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Recurrent infections, Portal hypertension, Leukopenia, Peripo... ORPHA:64743
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Hepatomegaly, Increased circulating antibody leve... OMIM:615285
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Absent natural killer cells, Hist... ORPHA:2442
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Chroni... OMIM:209920
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Abnormality of tumor necrosis factor s... ORPHA:158061
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Cholestasis-Lymphedema Syndrome
Erysipelas, Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, ... OMIM:214900
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyphagia, Hyper... OMIM:222100
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, H... ORPHA:444463
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Eczema, Recu... OMIM:300988
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... OMIM:614470
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepat... OMIM:251880
Leptin Receptor Deficiency
Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Abnormal eating behavior, Diabetes mell... OMIM:614963
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Congestive hear... ORPHA:139507
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Recurrent pneumonia, Recurrent infections, Decreased circulating IgG... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Sclerosing chola... OMIM:308230
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis ORPHA:50809
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased... ORPHA:79085
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Neutropenia, Anemi... OMIM:604250
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:608709
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:607594
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Agammaglobulinemia, Arthritis, Hypocalcemia, Thrombocytopenia, Me... ORPHA:47
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Increased circulating lactate dehydrogenase concentration, Fa... ORPHA:79303
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Prolonged neonatal jaundice, Biliary tract abnormality, Neonatal hyperb... ORPHA:79234
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... ORPHA:829
Ch├ędiak-Higashi Syndrome
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Recurrent streptococcal ... ORPHA:167
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Loss of gluteal subcutaneous adipos... ORPHA:280356
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Pulmonic stenosis, ... OMIM:614300
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Maculopapular exanthema, Anemia, Increased serum ... ORPHA:540
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Congenital Disorder Of Glycosylation, Type Iir
Recurrent infections, Hepatic steatosis, Decreased liver function, Hepatomegaly, Decreased circul... OMIM:301045
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopat... OMIM:610717
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... OMIM:231100
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Disseminated nontuberculous mycobacterial infection, Recurrent mycobacterial infections, Recurren... ORPHA:319552
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Synovitis, Osteolysis of scaphoids, Osteolysis of patellae OMIM:609655
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, High palate, Recurrent skin infections, Agammaglobulinemia, Arth... ORPHA:33110
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, L... ORPHA:435660
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasi... OMIM:607765
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Cystic Echinococcosis
Eosinophilia, Abnormality of the pancreas, Unusual infection, Biliary tract obstruction, Elevated... ORPHA:400
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Increased C-peptide level, Decreased plasma carniti... ORPHA:71212
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Abnormal enzyme/coenzyme activity, Intermittent jaundice... ORPHA:3111
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Increased C-peptide level, Decreased adiponectin level, Hyp... OMIM:615238
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Carcinoid Syndrome
Intestinal carcinoid, Abnormal B-type natriuretic peptide level, Chronic noninfectious lymphadeno... ORPHA:100093
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Cirr... ORPHA:2137
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Severe infection, Severe cytomegalovirus infection, Invasive fungal infection, Anem... ORPHA:158048
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Foamy urine, Stage... ORPHA:656
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Anterior uveitis, Panuveitis, Re... OMIM:607665
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Decreased body weight, Abnormality of body weight, Decreased serum insulin-like gro... ORPHA:314811
Thymic Aplasia
Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Opportunistic infec... ORPHA:83471
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Angel-Shaped Phalangoepiphyseal Dysplasia
Premature osteoarthritis, Delayed ossification of carpal bones, Hip osteoarthritis, Hyperextensib... OMIM:105835
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Precocious puberty, Type II diabetes ... ORPHA:254516
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections OMIM:617014
Systemic Mastocytosis With Associated Hematologic Neoplasm
Elevated total serum tryptase, Osteoporosis, Thrombocytopenia, Peptic ulcer, Normocytic anemia, M... ORPHA:98849
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Hematuria, Mesangial hypercellula... ORPHA:329918
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Recurrent infections, Reticulocytosis, Leukocytosis, Eleva... ORPHA:232
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Graft Versus Host Disease
Gastrointestinal inflammation, Chronic hepatitis, Maculopapular exanthema, Hyperbilirubinemia, In... ORPHA:39812
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Elevated circulating alanine aminotransferase concentration, Hepatosplenomegal... ORPHA:79302
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased circulating lactate dehydrogenase concentration, Gastrointestinal hemorrhage, Cholestas... ORPHA:247598
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Recurrent infections, Hepatomegaly, Elevated circulating creatine kinase ... OMIM:615895
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous ... ORPHA:435651
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Caroli Syndrome
Hepatic failure, Cholangitis, Intrahepatic cholestasis, Hyperbilirubinemia, Hematemesis, Pancreat... ORPHA:480520
Kienbock Disease
Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans ORPHA:97332
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinem... OMIM:235555
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia ORPHA:79235
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619386
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abnormality of the pancreas, Polycystic liver disease, Gastroesophag... ORPHA:2924
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Infectiou... ORPHA:292
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... OMIM:604367
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Placental Insufficiency
Abnormal placenta morphology, Intrauterine growth retardation, Eclampsia, Maternal hypertension, ... ORPHA:439167
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:169154
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated hepatic transaminase OMIM:615395
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Nephrotic Syndrome, Type 17
Proteinuria, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 chronic kidney ... OMIM:618176
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption, Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis,... OMIM:214950
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Recurrent infections, Abnormality of the liver, Hyponatremia, ... ORPHA:1667
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Severe infection, Coombs-positive hemolytic anemia, Arthritis, Autoimmune th... OMIM:304790
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Reduced ejection fraction, Periportal fibrosis, Gastroesophageal reflux, Decre... OMIM:201475
Malaria
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive, Diarrhea, Vomiting OMIM:606528
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased to... OMIM:618528
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Relapsing Fever
Increased circulating lactate dehydrogenase concentration, Leukopenia, Elevated circulating creat... ORPHA:91547
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Orthostatic hypotension, Gastrointestinal inflammation, Osteo... ORPHA:186
Hepatic Veno-Occlusive Disease
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Increased total bilirubin ORPHA:890
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration... OMIM:251900
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Persistent CMV vi... OMIM:619220
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Anemia, Thrombocytopenia, Skin rash, Increased circulating ferritin concentration, ... OMIM:603553
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Severe infection, Increased circulating myelocyte ... ORPHA:36234
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Severe infection, Chola... ORPHA:183675
Infantile Sialic Acid Storage Disease
High palate, Osteopenia, Vacuolated lymphocytes, Congestive heart failure, Splenomegaly, Hepatome... OMIM:269920
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Elevated... ORPHA:567983
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Pneumonia, Recurrent viral infections, Recurrent bacterial infecti... OMIM:603554
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Hyperbilirubinemia, Elevate... OMIM:210500
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Osteoarthritis, Hepa... OMIM:606069
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Autoimmune hemolyt... ORPHA:331206
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Peritonitis, Abnormal glomerular v... ORPHA:567548
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Mental deterioration, Meningitis OMIM:617900
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... OMIM:616818
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:618805
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Interface hepatitis, Autoimmune hemolytic anemia, Intestinal atresia, Hypopla... OMIM:243150
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Me... OMIM:618999
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic choles... OMIM:601847
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy OMIM:246650
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Fat malabsorption, Osteopenia, Intrahepatic cholestasis with episodic jaundice, S... OMIM:211600
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly, Elevated leukocyte alkaline phosphatase OMIM:162830
Mastocytosis
Chronic leukemia, Mastocytosis, Gastrointestinal hemorrhage, Hypercalcemia, Arrhythmia, Splenomeg... ORPHA:98292
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia, Hypergonadotropic hypogonadism, Failure to thrive, Polyphagi... OMIM:606407
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Congestive heart ... OMIM:619048
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Persistent patent ductus venosus,... OMIM:601466
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnor... ORPHA:848
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Hepatic failure, Abnormality of the liver, Arrhythmia, Macu... ORPHA:398124
Felty Syndrome
Episcleritis, Anemia, Recurrent urinary tract infections, Thrombocytopenia, Recurrent pneumonia, ... ORPHA:47612
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Graves Disease, Susceptibility To, 1
Goiter, Graves disease, Polyphagia, Weight loss OMIM:275000
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurrent urinary tr... OMIM:615559
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Meningitis, Neutropenia, Ane... OMIM:616740
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Mental deterioration, Meningitis OMIM:613002
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Cirr... ORPHA:562639
Anemia, Congenital Dyserythropoietic, Type Iv
Increased circulating lactate dehydrogenase concentration, Anisocytosis, Anemia, Increased RBC di... OMIM:613673
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Secondary Short Bowel Syndrome
Primary hypothyroidism, Central hypothyroidism, Abnormal blood ion concentration, Constipation, V... ORPHA:95427
Mody
Large for gestational age, Glycosuria, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, ... ORPHA:552
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Hepatic failure, Cholangitis, ... OMIM:615207
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Increased tota... OMIM:174050
Immunodeficiency 47
Exocrine pancreatic insufficiency, Cholestasis, Accessory spleen, Decreased circulating total IgG... OMIM:300972
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Transient n... OMIM:619707
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegal... OMIM:619644
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Recurrent bronchopulmonary infections ORPHA:90023
Renal Glucosuria
Glycosuria, Polydipsia, Polyphagia OMIM:233100
Immunodeficiency 55
Recurrent infections, Recurrent skin infections, Neutropenia, Eczema, Lymphadenopathy OMIM:617827
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Sepsis, Pancreatitis, Thrombocytopenia, Hyperammonemia ORPHA:289916
Lipoyltransferase 1 Deficiency
Decreased liver function, Pulmonary arterial hypertension, Elevated hepatic transaminase, Increas... OMIM:616299
Hepatocellular Carcinoma
Hypokalemia, Anemia, Hepatic necrosis, Hyperbilirubinemia, Budd-Chiari syndrome, Liver abscess, T... ORPHA:88673
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypercholesterolemia, Congestive heart failure, Myocardial infarction, Hyperte... OMIM:615703
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Thrombocytopenia, ... ORPHA:79312
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Elevated alkaline phosphatase of bone ... OMIM:616828
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Recurrent infections, Hepatic steatosis, Osteopenia, Decreased circulating IgA level, Sple... OMIM:613327
Crigler-Najjar Syndrome
Infectious encephalitis, Cognitive impairment, Memory impairment ORPHA:205
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Recurrent urinary tract infections, Otitis media, Lymp... OMIM:613179
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Recurrent otitis media, Elevated circulating alanine aminotransferase con... OMIM:614921
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased subcutaneous truncal adipos... OMIM:608600
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Po... ORPHA:3202
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Interface hepatitis, Elevated circulating asp... OMIM:611182
Renal Failure, Progressive, With Hypertension
Proteinuria, Nephritis, Microscopic hematuria, Renal insufficiency, Stage 5 chronic kidney disease OMIM:161900
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Decreased circulat... ORPHA:169079
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Hypercholesterolemia, Truncal obesity, Fail... ORPHA:181393
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Congestive heart failure, Splenomegaly, Hepatomegal... OMIM:613313
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Leukopenia, Bone marrow hypocellularity, Patent ductus arteriosus, Increased... OMIM:617303
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia... ORPHA:79477
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Leukocytosis, Severe infection, Gastrointestin... ORPHA:90051
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Hashimoto thyroiditis, Rheumatoid... ORPHA:331235
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Chronic neutropenia, Anemia, Aplastic anemia, Th... ORPHA:811
Aspergillosis
Eosinophilia, Sinusitis, Pneumonia, Invasive pulmonary aspergillosis, Infectious encephalitis, Me... ORPHA:1163
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
3-Methylglutaconic Aciduria, Type Viib
Neutropenia, Recurrent infections OMIM:616271
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Recurrent infections, Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatom... ORPHA:264580
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Acanthocytosis, Jaundice, Increased mean corpuscular hemoglobin conce... OMIM:616689
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatic necrosis, Hepatomegaly, Hepatic fibrosis ORPHA:33402
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Leukopenia, Pneumonia, Congestive hear... ORPHA:454836
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Focal ... OMIM:614131
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Constipation, Gastroesophageal reflux, Obesity... OMIM:615547
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent pneumonia, Leukopenia, Increased circulating lactate dehydrogen... OMIM:604173
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Arrhythmia, Infectious encephalitis, Endocarditis, Spl... ORPHA:549
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Neutropenia, Abnormal intestine morphology, Hyp... OMIM:600351
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:612692
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Rod-cone dystrophy, Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Increased circulating lactate dehydrogenase concentration, Arrhythmia, Elevat... ORPHA:26791
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... OMIM:601894
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Generalized osteoporosis, Autoimmune hemolytic anemia, Hepatitis, Inflammatory abnormality of the... ORPHA:391487
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Recurrent infections, Hepatic failure, Refractor... OMIM:557000
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:314802
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:608594
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypoalbu... OMIM:619013
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Polyphagia, Hyperglycemia OMIM:615986
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circul... ORPHA:370
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Recurrent infections, Microvesicular hepatic steatosis, Hepatosp... OMIM:618278
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatic failure, Cholestasis, Elevated gamma-glutamyltransferase level, Severe cytom... OMIM:619573
Glutathione Synthetase Deficiency
Neutropenia, Reduced glutathione synthetase level, Hemolytic anemia OMIM:266130
New-Onset Refractory Status Epilepticus
Autoimmunity, Cognitive impairment, Infectious encephalitis, Focal T2 hyperintense basal ganglia ... ORPHA:363558
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Generalized morning stiffness, Constrictive pericarditis, Arthritis, Arthropathy, Wrist flexion c... OMIM:208250
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Osteoporosis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerat... ORPHA:171
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Leukopenia, Monocytosis, Patent ductus arteriosus, Mitral regurgitation, Recurrent b... OMIM:612541
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Abnorma... ORPHA:911
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Severe cytomegalovirus infection, Invasive fungal... ORPHA:48435
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Elevated hepatic transaminase, Increased total iron bin... ORPHA:98870
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, D... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, D... OMIM:233710
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Hereditary Spherocytosis
Cholelithiasis, Maculopapular exanthema, Splenomegaly, Hepatomegaly, Jaundice, Increased mean cor... ORPHA:822
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Villous atrophy, Decreased specific anti-polysaccharide antibody lev... OMIM:606367
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Recurrent infections, Portal hypertension, Hepatosplenomegaly, Cholangitis, Acute h... ORPHA:228426
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia ORPHA:941
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity,... OMIM:613280
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Arrhythmia, Hepatomegaly, Elevated circulating creat... OMIM:255120
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:269700
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Increas... ORPHA:79644
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Arrhythmia, Elevated circul... ORPHA:228305
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Abnormal gastric... ORPHA:234
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Yellow Fever
Elevated circulating creatinine concentration, Pancreatic hyperplasia, Hyperbilirubinemia, Opport... ORPHA:99829
Q Fever
Unusual infection, Maculopapular exanthema, Anemia, Hepatitis, Thrombocytopenia, Abnormal left ve... ORPHA:781
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated gamma-gl... OMIM:603471
Chediak-Higashi Syndrome
Recurrent infections, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, Spl... OMIM:214500
Immunodeficiency 37
Colitis, Recurrent infections, Decreased proportion of central memory CD4-positive, alpha-beta T ... OMIM:616098
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, E... OMIM:618348
Huntington Disease
Choking episodes, Oral-pharyngeal dysphagia, Decreased body mass index, Polyphagia, Abnormal circ... ORPHA:399
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, D... OMIM:233690
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Elevated ... ORPHA:542323
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Intracranial hemorrhage, Cleft palate ORPHA:398189
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387