Gene Summary

Name:
toll-like receptor 2
Synonyms:
Ly105

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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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Colon  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node 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)
Parathyroid gland N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve 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)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

7 Images

Human diseases caused by Tlr2 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 Tlr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Colorectal Cancer
Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom... OMIM:114500
Leprosy, Susceptibility To, 3
OMIM:246300

The table below shows human diseases predicted to be associated to Tlr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent bacterial infections, Recurrent respiratory in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Recurrent Klebsiella infections, Recurrent herpes, Disseminated ... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... OMIM:605258
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Impaired Ig class switch recombination, R... OMIM:608106
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:613500
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Recurrent bacterial infections... OMIM:606843
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Autoimmune Polyendocrinopathy Type 1
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... ORPHA:3453
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... ORPHA:293964
Immunodeficiency 110 With Lymphoproliferation
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections OMIM:608957
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... ORPHA:79084
Immunodeficiency 33
Decreased circulating total IgM, Pneumocystis jirovecii pneumonia, Recurrent bacterial infections... OMIM:300636
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent... OMIM:300310
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:613502
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Bloody diarrhea, Enterocolitis, Jejunal atresia, Hypoplasia of the thymus, Dec... OMIM:243150
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... OMIM:613501
Immunodeficiency 24
Respiratory tract infection, Severe varicella zoster infection, Decreased specific pneumococcal a... OMIM:615897
Zollinger-Ellison Syndrome
Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intest... ORPHA:913
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Recurrent infections, Decreased circulating IgG level OMIM:146830
Vipoma
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the liver, Neoplasm of the pancreas, Incr... ORPHA:97282
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Decreased activity of mitochondrial complex IV OMIM:619025
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumoni... OMIM:612692
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol ... OMIM:615830
Eosinophilic Gastroenteritis
Vomiting, Diarrhea, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption, Allerg... ORPHA:2070
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... ORPHA:404
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... ORPHA:71212
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent Staphylococcus aureus ... OMIM:613953
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Abnor... ORPHA:99886
Solitary Rectal Ulcer Syndrome
Episodic abdominal pain, Bloody diarrhea, Intermittent diarrhea, Decreased body weight, Stercoral... ORPHA:209964
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Nephrotic syndrome, Progressive loss of facial adipose ... OMIM:608709
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:324575
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Neuroendocrine Tumor Of The Rectum
Hypotension, Bloody diarrhea, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Elevated... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hypotension, Bloody diarrhea, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Elevated... ORPHA:100082
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... OMIM:610717
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Decreased circulating ACTH level, Increased urinary cortisol le... OMIM:615954
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemic hypoglycemia, Diffuse pancr... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276575
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... OMIM:615703
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia OMIM:613148
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Loss of glute... ORPHA:280356
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media OMIM:616941
Mandibuloacral Dysplasia
Hyperinsulinemia, Increased circulating free fatty acid level, Contractures of the large joints, ... ORPHA:2457
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Diarrhea, Weight loss, Abdominal distention, A... ORPHA:103910
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... OMIM:610600
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Chronic diarrhea, Abdominal pain, Elevate... OMIM:615895
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Hypokalemia, Abdominal pain, Hypoc... OMIM:175500
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent mycobacterial infections, Coccidioidomycosis, Severe toxoplasmosis, Tegumentary leishma... ORPHA:319552
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D... OMIM:612526
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... ORPHA:90791
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Recurrent bacterial infections, Recurrent upper respirato... OMIM:608184
Inflammatory Bowel Disease 11
Diarrhea, Weight loss, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Diarrhea... OMIM:613812
Whim Syndrome 1
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent upper respiratory... OMIM:193670
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Recurrent streptococcal inf... OMIM:607676
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Increased adipose tis... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Gonadotropin deficiency, Increased adipose tis... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Zygomycosis
Diarrhea, Fasciitis, Pericarditis, Gastritis, Hematological neoplasm, Colitis, Hematemesis, Splen... ORPHA:73263
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556037
Juvenile Polyposis Of Infancy
Patent ductus arteriosus, Diarrhea, High, narrow palate, Intussusception, Abdominal pain, Cachexi... ORPHA:79076
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Recurrent tonsillitis OMIM:613779
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Diarrhea, Weight loss, Abdominal pain, Abdominal disten... ORPHA:160148
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible primary hyperal... ORPHA:251274
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... OMIM:500013
Specific Granule Deficiency 1
Recurrent bacterial infections, Impaired neutrophil bactericidal activity OMIM:245480
Vascular Hyalinosis
Diarrhea, Malabsorption, Chorioretinal scar, Protein-losing enteropathy, Subarachnoid hemorrhage,... OMIM:277175
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutan... ORPHA:363400
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Decreased circulating antibody level, Hepatitis, Folliculitis, ... OMIM:300635
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... ORPHA:786
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Fat malabsorption, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased ... OMIM:214950
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Recurrent infections OMIM:235900
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... ORPHA:556030
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... OMIM:232700
Carcinoma Of Esophagus
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Dysphag... ORPHA:70482
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... ORPHA:189439
Congenital Bile Acid Synthesis Defect Type 4
Hypogonadism, Type II diabetes mellitus, Elevated hepatic transaminase, Elevated circulating crea... ORPHA:79095
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:178320
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Recurrent urinary tract infections, Reduced isohemaggluti... OMIM:614699
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Vomiting, Diarrhea, Feeding difficulties in infancy, Generalized aminoaciduria,... OMIM:606528
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Episodic tachypnea, Small ... ORPHA:26793
Secondary Short Bowel Syndrome
Central hypothyroidism, Diarrhea, Abnormal blood ion concentration, Intestinal atresia, Sepsis, E... ORPHA:95427
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Villous atrophy, Recurrent urinary tract infections, Malabsorption, Bil... OMIM:209920
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Increased circulating interleukin 6 concentration, Abnormality of tumor ... ORPHA:540
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Neonatal sepsis, Increased circulating ACTH level, Decreased circulating cortisol... ORPHA:90790
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia OMIM:613677
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Respiratory distress, Hep... ORPHA:26792
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Type II ... OMIM:604367
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Abnormal renal c... ORPHA:464321
Immunodeficiency 84
Persistent EBV viremia, Recurrent bacterial infections OMIM:619437
Mody
Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoinsulinemia, Hepatocellular adenoma, Gl... ORPHA:552
Diarrhea 10, Protein-Losing Enteropathy Type
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, ... OMIM:618183
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Colitis,... OMIM:617006
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... OMIM:619386
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Biliary cirrhosis, Decreased body weight, Abnormal circ... ORPHA:2298
Wiskott-Aldrich Syndrome
Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Eczema, Chronic leukemia, Neoplas... ORPHA:906
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Bloody diarrhea, Diarrhea, Hepatic steatosis, Hypertrophic cardiomyopathy, Hepato... OMIM:615846
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain, Diabetes mellitus, Atypical scarring of skin ORPHA:46487
Acquired Partial Lipodystrophy
Glomerulopathy, Lymphocytosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Proteinuria, M... ORPHA:79087
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... OMIM:619048
Insulin Autoimmune Syndrome
Weight loss, Increased circulating antibody level, Nonketotic hypoglycemia, Insulin resistance, H... ORPHA:411593
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the nervous system, Prostate cancer, Urinary retention, Genital neoplasm, Weight loss... ORPHA:2126
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca... ORPHA:157794
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Bicuspid aortic valve, Atrial septal defect, Tremor, Decrea... OMIM:617744
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Type I di... OMIM:619707
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal hyperplasia, A... ORPHA:369929
Turcot Syndrome With Polyposis
Neoplasm of the central nervous system, Diarrhea, Ependymoma, Hepatoblastoma, Soft tissue neoplas... ORPHA:99818
Pancreatitis, Hereditary
Pancreatic pseudocyst, Pancreatic calcification, Diabetes mellitus, Exocrine pancreatic insuffici... OMIM:167800
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... OMIM:614480
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... OMIM:615980
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis medi... OMIM:607594
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Increased circulating interleukin 6 ... ORPHA:158061
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Poor suck, Weight loss, Abnormal large intestine morphology, Nausea and ... ORPHA:2198
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Hematuria, Intracranial hemorrhage, Bru... ORPHA:326
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... ORPHA:100083
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Chronic diarrhea, Colitis, Pneumonia, Spleno... OMIM:614700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Recurrent oti... OMIM:618944
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia ORPHA:96181
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase, Mildly elevated creatine kinase OMIM:618400
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric pol... OMIM:174900
Obesity Due To Sim1 Deficiency
Hypotension, Hyperinsulinemia, Increased resting energy expenditure, Polyphagia, Attention defici... ORPHA:369873
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal... ORPHA:231580
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Failure to... OMIM:615767
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Decreased prealbumin level, Crusting erythematous dermatitis, Cachexia, Elevated ... ORPHA:37042
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... ORPHA:435660
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... OMIM:616829
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Insulinoma
Primary hyperparathyroidism, Hyperinsulinemia, Hyperhidrosis, Nonketotic hypoglycemia, Neoplasm o... ORPHA:97279
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Diabetes mellitus ORPHA:676
Monosomy 13Q34
Pulmonic stenosis, Insulin resistance, Hepatic steatosis, Epistaxis, Hypercalcemia, Prolonged pro... ORPHA:96168
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... OMIM:613877
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Adult Acute Respiratory Distress Syndrome
Hypotension, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fac... ORPHA:70578
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Chronic oral candidiasis, Reduced natural killer cell activity, ... OMIM:300400
Caspase 8 Deficiency
Decreased circulating total IgM, Decreased T cell activation, Recurrent sinopulmonary infections,... OMIM:607271
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Chylous Ascites
Pancreatitis ORPHA:1160
Immunodeficiency 70
Achalasia, Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinus... OMIM:618969
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Recurrent infections, Decreased circulating Ig... OMIM:137100
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Abnormal circulating testosterone concent... OMIM:108420
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:254516
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination ORPHA:401835
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Loss of facial adipose tissue, Hepatic steatosis, Li... ORPHA:435651
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... OMIM:300291
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegaly OMIM:243300
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Portal inflammation, Cholangitis, Cholecystit... OMIM:600803
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Impaired T cel... OMIM:614576
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Juvenile Polyposis Syndrome
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ... ORPHA:2929
Spermatogenic Failure 15
Non-obstructive azoospermia, Abnormal circulating testosterone concentration, Abnormal circulatin... OMIM:616950
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Recurrent respiratory infections, Increased mitoc... OMIM:619063
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Increased C-peptide level, Insulin re... ORPHA:528
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent sinusiti... OMIM:613101
Hermansky-Pudlak Syndrome 1
Abdominal pain, Bruising susceptibility, Ecchymosis, Epistaxis, Inflammation of the large intesti... OMIM:203300
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipodystrophy, Polycystic ovaries, Decreased serum leptin,... ORPHA:79085
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Disseminated molluscum contagiosum, Recurrent sinusitis, Recurre... OMIM:243700
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Decreased proporti... OMIM:301045
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Exertional dyspnea, Elevated urinary 3-hydroxybutyric acid, Cachexia, Dica... ORPHA:42
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... OMIM:617872
Mantle Cell Lymphoma
Weight loss, Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, B-cell lymphoma ORPHA:52416
Immunodeficiency 58
Bronchiectasis, Eczema, Recurrent cutaneous abscess formation, Chronic diarrhea, Colitis, Dysphag... OMIM:618131
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly OMIM:608600
Reticular Dysgenesis
Diarrhea, Weight loss, Decreased circulating antibody level, Malabsorption, Skin rash, Aplasia/Hy... ORPHA:33355
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Bloody diarrhea, Cellulitis, Skin rash, Vasculitis, Vasculitis in the skin, Inflammation of the l... OMIM:617718
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased T cell activati... ORPHA:66628
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency, Decreased activity of mitochondrial complex I OMIM:618238
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... ORPHA:103918
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Bloody diarrhea, Ulcerative colitis OMIM:619398
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
5-Oxoprolinase Deficiency
Prolinuria, Vomiting, Enterocolitis, Diarrhea, Calcium oxalate nephrolithiasis, Abdominal pain, I... OMIM:260005
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased T cell activati... ORPHA:179494
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... ORPHA:95699
African Iron Overload
Abnormal thyroid morphology, Hepatic fibrosis, Increased circulating cortisol level, Abnormality ... ORPHA:139507
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal... OMIM:278000
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Leptin Deficiency Or Dysfunction
Recurrent ear infections, Hypogonadism, Decreased testicular size, Decreased serum leptin, Recurr... OMIM:614962
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... ORPHA:264580
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent sin... OMIM:609529
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Elevated hepati... ORPHA:369
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Decreased circulating total IgM, Reduced natural killer cell activity, Recurren... OMIM:619281
Spermatogenic Failure 77
Azoospermia, Oligospermia, Abnormal circulating testosterone concentration, Abnormal circulating ... OMIM:620103
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks, Recurrent upper re... OMIM:615139
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating total IgM, Decreased circulating antibody level, Pneumo... OMIM:614069
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased facial adipose tissue, Type II diabetes mellitus, Reduced subcutaneou... OMIM:151660
Immunodeficiency By Defective Expression Of Mhc Class Ii
Gait ataxia, Recurrent candida infections, Panhypogammaglobulinemia, Lack of T cell function, Dec... ORPHA:572
Radiation Proctitis
Abnormal gastrointestinal vascular morphology, Abnormality of connective tissue, Sepsis, Diarrhea... ORPHA:70475
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cutaneous fung... ORPHA:276
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Methicillin-resistant Staphylococcus aureus infection, Chronic oral candidiasis, Bronchiectasis, ... OMIM:618282
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased ser... OMIM:615238
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... ORPHA:69663
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Villous atrophy, Reduced natural killer cell activity, Feeding difficulties in inf... OMIM:616050
Idiopathic Achalasia
Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss,... ORPHA:930
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity ORPHA:329249
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level, Aspiration OMIM:610768
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Renal steatosis, Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Hemochromatosis, Type 4
Cirrhosis, Anemia, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis... OMIM:606069
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Aspiration pneumonia, W... ORPHA:141152
Cowden Syndrome 1
Breast carcinoma, Hypothyroidism, High palate, Colonic diverticula, Hyperthyroidism, Decreased ci... OMIM:158350
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Cellulitis, Pancreatitis, Insulin resistance, Hepatic steatosis, Diabetes mellitu... ORPHA:2348
Neuroendocrine Tumor Of Stomach
Hypotension, Bloody diarrhea, Facial telangiectasia, Cardiogenic shock, Atypical pulmonary carcin... ORPHA:100075
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bronchiectasis, Ulcerative co... OMIM:618394
Immunodeficiency 37
Infectious encephalitis, Colitis, Recurrent infections, Decreased circulating antibody level OMIM:616098
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... OMIM:615381
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating antib... OMIM:300988
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu... OMIM:255120
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating creatine kinase con... ORPHA:370
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia, Hypergl... ORPHA:941
Neuroendocrine Tumor Of The Colon
Hypotension, Bloody diarrhea, Facial telangiectasia, Tricuspid regurgitation, Weight loss, Increa... ORPHA:100080
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Decreased T cell activation, Recurrent lower respiratory tract infectio... OMIM:308230
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Increased ci... ORPHA:2688
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... OMIM:212140
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Galactokinase Deficiency
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... ORPHA:79237
Tyrosinemia, Type I
Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein c... OMIM:276700
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hyperuricemia, Pancreatitis, Insulin resistance, Maternal diabetes, Hepatic steatosis,... ORPHA:79083
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Shigellosis
Hemolytic-uremic syndrome, Bloody diarrhea, Abnormal blood ion concentration, Hypoglycemia, Hypon... ORPHA:810
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea,... ORPHA:652
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Jaundice, Hepatocellular carcinoma, Acholic stools, Cholestatic liver ... ORPHA:65682
Alstrom Syndrome
Tubulointerstitial nephritis, Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased res... OMIM:203800
Acquired Generalized Lipodystrophy
Lymphoma, Cirrhosis, Hyperinsulinemia, Astrocytoma, Abnormal circulating lipid concentration, Ins... ORPHA:79086
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... OMIM:619013
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hyperhidrosis, Abnormal mitochondrial shape, Decreased activity of mitochondrial complex III, Dec... ORPHA:17
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Chroni... OMIM:617638
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM OMIM:606445
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Lymphoma, Recurrent bacterial skin infections, Recurrent mycobacterial infections,... ORPHA:911
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Trichohepatoenteric Syndrome 2
Cirrhosis, Bloody diarrhea, Chronic diarrhea, Diarrhea, Villous atrophy, Small for gestational ag... OMIM:614602
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Bronchiectasis, Eczema, Hepatosplenomegaly, Abnormal intestine morphology, Esophageal c... ORPHA:391487
X-Linked Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Weight loss, Cellulitis, Malabsorption, Hepatitis, Skin rash, Arth... ORPHA:47
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Obesity, Colitis ORPHA:88643
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Decreased circulating total IgM, Abnormal ... OMIM:615577
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... ORPHA:79644
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent ot... OMIM:601495
Pulmonary Blastoma
Pleuropulmonary blastoma, Recurrent pneumonia, Weight loss ORPHA:64741
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Abnormal cardiac septum morphology, Decreased circulating antibody level ORPHA:99811
Immunodeficiency 102
Sepsis, Severe varicella zoster infection, Increased circulating interleukin 6 concentration, Dec... OMIM:301082
Autoimmune Hepatitis
Spider hemangioma, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular carcinoma, E... ORPHA:2137
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Knee flexion contracture, Vomiting, High palate, Hip contracture, Necrotizing enterocolitis, Elbo... OMIM:616809
Pseudomyxoma Peritonei
Hernia, Weight loss, Nausea and vomiting, Abdominal pain, Abnormality of the peritoneum, Inflamma... ORPHA:26790
Porphyria Cutanea Tarda
Scarring, Hepatocellular carcinoma, Portal inflammation, Elevated hepatic transaminase, Hepatic s... ORPHA:101330
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Tricuspid regurgitation, Decreased circulating total IgM, Bronchiectasis, Wolff-Parkinson-White s... OMIM:619705
Sweet Syndrome
Acute myeloid leukemia, Breast carcinoma, Oligoarthritis, Increased circulating interleukin 6 con... ORPHA:3243
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Flexion contracture, Insulin resistance, Elevated hepatic transaminase, Elevate... OMIM:613327
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Decreased serum estradiol, T lymphocytopenia, Small for gestational ... ORPHA:2959
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Spermatogenic Failure 14
Azoospermia, Abnormal prolactin level, Abnormal circulating testosterone concentration, Abnormal ... OMIM:615842
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Gastroesophageal reflux, Periportal fibrosis, Reduced left ventricular ejec... OMIM:201475
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Neoplasm of the skin, Glomerulonephritis, Gastritis, Bone marrow hypoce... ORPHA:3261
Ebola Hemorrhagic Fever
Vomiting, Diarrhea, Poor appetite, Increased circulating antibody level, Hepatitis, Abdominal pai... ORPHA:319218
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Syndromic Diarrhea
Hypothyroidism, Bloody diarrhea, Abnormality of iron homeostasis, Hypoplasia of the thymus, Hepat... ORPHA:84064
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Myelodysplasia, Hepatocellular carcinoma, Elevated hepatic transaminase, ... ORPHA:158057
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Duplicated collecting system... OMIM:617093
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hypergl... OMIM:222100
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Pneumonia, Sepsis, Decreased circulating IgG level, Recurrent tonsillitis, Decrea... ORPHA:183675
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating total IgM, Post-vaccination measles, Severe... OMIM:616636
Primary Sclerosing Cholangitis
Spider hemangioma, Cholangiocarcinoma, Hepatocellular carcinoma, Elevated hepatic transaminase, H... ORPHA:171
Immunodeficiency 76
Recurrent pneumonia, Colitis, Chronic diarrhea, Recurrent bronchiolitis, Splenomegaly, B-cell lym... OMIM:619164
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Cellulitis, Arthritis, Elbow flexion contracture, Hepatosplenomegaly, C... OMIM:604416
Familial Colorectal Cancer Type X
Flexion contracture, Neoplasm of the pancreas, Hepatocellular carcinoma, Abnormal circulating cre... ORPHA:440437
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Duodenal polyposis, Multiple gastric polyps, Abnormal bleeding, Small intestinal polyposis, Recta... ORPHA:329971
Mpi-Cdg
Hypothyroidism, Hepatic fibrosis, Vomiting, Diarrhea, Hyperinsulinemic hypoglycemia, Failure to t... ORPHA:79319
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Diarrhea, Decreased circulating antibody level, Bronchiectasis, Skin rash, Infl... OMIM:618108
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Diarrhea, Abnormal testis morphology, Hepatosplenomegaly, Intestinal obstr... ORPHA:85450
Immunodeficiency 97 With Autoinflammation
Enterocolitis, Decreased circulating total IgM, Diarrhea, Decreased circulating antibody level, R... OMIM:619802
Immunodeficiency 47
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Thrombocyto... OMIM:300972
Hirschsprung Disease
Diarrhea, Weight loss, Nausea and vomiting, Functional abnormality of the gastrointestinal tract,... ORPHA:388
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention OMIM:616868
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Septic arthritis, Bloody diarrhea, Diarrhea, Oliguria, Hyponatremia,... ORPHA:544482
Thymic Aplasia
Invasive fungal infection, Opportunistic infection, Severe infection, Recurrent Staphylococcus au... ORPHA:83471
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria... ORPHA:228308
Familial Pancreatic Carcinoma
Neoplasm of the liver, Elevated hepatic transaminase, Melanoma, Hepatosplenomegaly, Ovarian carci... ORPHA:1333
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination ORPHA:401830
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Lipody... ORPHA:90970
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Renal tubular acidosis, High, narrow palate, Chronic constipation, Recurrent otitis media, Failur... OMIM:619575
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Broad-based gait, Hepatic steatosis,... OMIM:618805
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Decreased response to growth hormone stimulation test, Feeding difficulties... OMIM:606407
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci... ORPHA:169160
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgE, Recurrent pneumonia, Decreased circul... OMIM:619824
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination ORPHA:431329
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia OMIM:619693
Hemorrhagic Fever-Renal Syndrome
Hypotension, Decreased body weight, Diarrhea, Acute tubulointerstitial nephritis, Elevated hepati... ORPHA:340
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Im... OMIM:261680
Somatostatinoma
Intermittent jaundice, Parathyroid adenoma, Diarrhea, Neoplasm of the pancreas, Increased circula... ORPHA:97283
Schaaf-Yang Syndrome
Gastroesophageal reflux, Flexion contracture, Poor suck, Hypogonadism, Camptodactyly, Arthrogrypo... OMIM:615547
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Malabsorption, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tra... ORPHA:79301
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hypoglycemia, Hyperlipidem... ORPHA:79259
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Inability to walk, Central sleep apnea, Ataxia, Hepatic steatosis, Fail... ORPHA:70472
20Q13.33 Microdeletion Syndrome
Small for gestational age, Hypospadias, Failure to thrive in infancy, Hematochezia ORPHA:261311
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Renal dysplasia, Elbow flexion contracture, Elevated hepatic transamin... OMIM:608836
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Hepatomega... OMIM:212065
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... OMIM:609734
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent sinopulmonary infections, Chronic mucocutan... OMIM:147060
Citrullinemia Type Ii
Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Delayed menarche, Acut... ORPHA:247585
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Cirrhosis, Hyperalaninemia, Vomiting, Diarrhea, Weight loss, Small intes... ORPHA:298
Adrenocortical Carcinoma
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol leve... ORPHA:1501
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent respiratory infections, Recurrent infections OMIM:614102
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Weight loss, Malabsorption, Abdominal pain, Cachexia, Abdominal distention, Malnutrition, Gastroi... OMIM:613662
Duodenal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Elevated hepatic transaminase, Palpitations, Hematemesis, Gastroi... ORPHA:100076
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hepatocellular carcinoma, Hepatomegaly, Elevated circulating alanine aminotran... ORPHA:2088
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Recurrent infections, Hypergonadotropic hypogonadism ORPHA:352447
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Argininosuccinic aciduria, Elevated circulating alanine aminotransferase concen... OMIM:603471
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination ORPHA:401820
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... OMIM:614963
Sepsis In Premature Infants
Hypotension, Decreased body weight, Diarrhea, Oliguria, Hepatomegaly, Decreased liver function, S... ORPHA:90051
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Polyphagia, Hyperlipidemia... OMIM:617885
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hypohidrosis, Chronic diarrhea, Bronchiectasis, Corneal scarring, Increased circulating interleuk... OMIM:301220
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Recurrent bacterial infections, Recurrent upper respiratory tract infecti... OMIM:616005
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Sneddon Syndrome
Ischemic stroke, Decreased circulating total IgM, Cerebral hemorrhage, Bicuspid aortic valve, Hyp... OMIM:182410
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Weight loss, Abdominal pain, Ulcerative... OMIM:266600
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Decreased circulating total IgM, Cellulitis, Interstitial pneumonitis, Ulcerative ... OMIM:614878
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Pediatric-Onset Graves Disease
Diarrhea, Sinus tachycardia, Increased circulating T4 concentration, Elevated hepatic transaminas... ORPHA:525731
Hyperinsulinism Due To Glucokinase Deficiency
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Cushing Disease
Recurrent cutaneous fungal infections, Pituitary corticotropic cell adenoma, Increased circulatin... ORPHA:96253
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Decreased cir... ORPHA:361
Graves Disease, Susceptibility To, 1
Hyperhidrosis, Hyperactivity, Weight loss, Congestive heart failure, Increased circulating free T... OMIM:275000
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Recurrent sinusitis, Recurrent staphylococcal... ORPHA:331235
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morphology, Periportal fibro... ORPHA:64743
Rhabdoid Tumor
Neoplasm of the central nervous system, Weight loss, Poor appetite, Nausea and vomiting, Sarcoma,... ORPHA:69077
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... ORPHA:280365
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, B-cell lymphoma, Microscopic hematuria, Chronic lymphatic leukemia... ORPHA:91139
Familial Chylomicronemia Syndrome
Pulmonary embolism, Recurrent pancreatitis, Decreased body weight, Perianal abscess, Jaundice, He... ORPHA:444490
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... OMIM:610475
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Thymoma
Neoplasm of the gastrointestinal tract, Weight loss, Decreased circulating antibody level, Rheuma... ORPHA:99867
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis OMIM:615996
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
Caroli Syndrome
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Abnormality of the ... ORPHA:480520
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Villous atrophy, Diarrhea, Vo... OMIM:602579
Intestinal Dysmotility Syndrome