Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Janus kinase 1
Synonyms:
C130039L05Rik,  BAP004

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Jak1 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 Jak1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hypothyroidism, Failure t... OMIM:618999

The table below shows human diseases predicted to be associated to Jak1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Refractory Celiac Disease
Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra... ORPHA:398063
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Decreased lymphocyte proliferation in response to mitogen, Defective T cell prolife... OMIM:618534
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d... OMIM:615559
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... OMIM:601859
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Leishmaniasis
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Increased circulat... ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Skin rash, Hypopro... OMIM:603553
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ... ORPHA:2298
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Beta-Thalassemia
Reduced bone mineral density, Anemia, Hepatomegaly, Cholelithiasis, Abnormality of iron homeostas... ORPHA:848
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Adamantinoma
Hypercalcemia ORPHA:55881
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Sting-Associated Vasculopathy, Infantile-Onset
Nail dystrophy, Skin rash, Periungual erythema, Joint stiffness, Pustule, Paratracheal lymphadeno... OMIM:615934
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased circulating IgG... OMIM:618048
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Elevated circulating h... ORPHA:540
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Sterile abscess, Arthritis, ... OMIM:604416
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Skin rash, Leuk... ORPHA:37748
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Abnormality of the endoc... ORPHA:37042
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Increased circulating lactate dehydrogenase conce... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... OMIM:267700
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Decreased circulating ant... OMIM:619750
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Nail dystrophy, Increased T cell count, Recurrent sinusitis, Sparse hair, Increased circulating I... ORPHA:98813
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Lymphadenopat... ORPHA:169154
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Nail dysplasia, Hepatomegaly, Recu... OMIM:612783
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Glycogen Storage Disease Vii
Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Hyperuricemia, Elevated circ... OMIM:232800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Macrocytic anemia, Decreased circulating cortisol level, Pitui... ORPHA:199299
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... ORPHA:231226
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Sinusitis, Bronchiectasis, F... OMIM:226990
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Decreased circulating ... OMIM:226300
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Biliary cirrhosis, Ascites, S... ORPHA:186
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, I... OMIM:619220
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Pet... OMIM:301000
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu... OMIM:306000
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplas... OMIM:603554
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Joint hypermobilit... OMIM:619013
Immunodeficiency 52
Death in childhood, Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Death... OMIM:617514
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Small nail, Anemia of inadequate production, Reticulocytosis, Poi... OMIM:615631
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Multiple Myeloma
Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Increased circulating IgG level, Abnorm... ORPHA:29073
X-Linked Agammaglobulinemia
Chronic otitis media, Sensorineural hearing impairment, Skin rash, Sinusitis, Recurrent cutaneous... ORPHA:47
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypocalcemic seizures, Ele... ORPHA:289157
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Hepatoportal Sclerosis
Elevated circulating hepatic transaminase concentration, Ascites, Leukopenia, Splenomegaly, Jaund... ORPHA:64743
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level... OMIM:241600
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Increased circ... OMIM:613673
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Ly... OMIM:615895
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Generalized aminoaciduria, Impaired glucose tolerance, Nephrocalcinosis, Hy... ORPHA:2088
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly,... ORPHA:100025
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 76
Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Glycogen Storage Disease Ixb
Hepatomegaly, Hyperuricemia, Increased hepatic glycogen content, Splenomegaly, Hypoglycemia, Redu... OMIM:261750
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Abnormal circulating ... ORPHA:79278
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Hemolytic-uremic syndrome, Low-set ears, Elevated circulating creatine kinase conce... OMIM:614727
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Neonatal death OMIM:615228
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Skin ulcer, Megaloblastic anemia, Increased circulating IgE l... OMIM:620603
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Sensorineural hearing impairm... ORPHA:443811
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Elevated circulating hepatic transaminase concentr... OMIM:232220
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Reduced HMG-CoA lyase activity in cultured fibroblasts, Glutaric aciduria, Hepatomegaly, Anemia, ... OMIM:246450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Enlarged kidney, Delayed puberty, Tubu... ORPHA:79259
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Decreased circulating antibody level, Hypoproteinemia, Lymphopenia ORPHA:1116
Poems Syndrome
Increased circulating antibody level, Abnormality of the endocrine system, Ascites, Splenomegaly,... ORPHA:2905
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Renal hypoplasia/aplasia, Ascites, Hypercalcemia, Thrombocytopenia, Renal i... ORPHA:2123
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ... OMIM:617718
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Low posterior hairline, Bone marrow hypocellularity, Leukopenia, Splenomegaly, N... OMIM:617303
Aicardi-Goutieres Syndrome 9
Elevated circulating hepatic transaminase concentration, Chilblains, Ascites, Pericarditis, Left ... OMIM:619487
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Majeed Syndrome
Delayed puberty, Skin rash, Anemia of inadequate production, Failure to thrive, Hepatosplenomegal... OMIM:609628
Rhabdoid Tumor
Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Hypercalcemia, Thrombocytopenia, Weight loss,... ORPHA:69077
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Alg12-Cdg
Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Small nail, ... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Low-set ears, Ascites, Camptodactyly... OMIM:608104
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... OMIM:257200
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Abnormal hair morphology, Neonatal hypoproteinemia, Decreased circul... OMIM:152800
Chédiak-Higashi Syndrome
Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent... ORPHA:167
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Addison Disease
Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Sparse ... ORPHA:85138
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Failure to thriv... ORPHA:172
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Cach... ORPHA:77297
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Premature graying of hair, Decreased HDL cholesterol concentration, Elevate... OMIM:256040
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Bence Jones Proteinu... ORPHA:100024
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,... OMIM:613845
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Increased circulating lactate dehydrogenase concentration, Splen... OMIM:619802
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Peric... OMIM:212065
Dengue Fever
Hepatomegaly, Petechiae, Skin rash, Hypoproteinemia, Ascites, Thrombocytopenia, Leukopenia, Pruritus ORPHA:99828
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Lymph node hypoplasia, Splenomegaly, Increased circulating guanosine concentration, Ly... OMIM:613179
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... OMIM:203800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Chronic kidney disease, Hyperuricemia, Renal cyst, Focal segmental glomerulosclerosis, Go... OMIM:617056
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Rheumatoid factor positive, Antinuclear ant... OMIM:618852
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypophosphatemia, Postprandial hyperglycemia, Rickets, Intrahepatic ch... OMIM:227810
Immunodeficiency 105
Death in childhood, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B l... OMIM:619924
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... OMIM:610163
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat... ORPHA:231222
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Increased circulating lactate dehydrogenase concen... ORPHA:543
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hyperbilirubinemia, Macrocytic... OMIM:224120
Trichohepatoenteric Syndrome 1
Microtia, Cholestasis, Renal cortical microcysts, Splenomegaly, Sparse hair, Fine hair, Jaundice,... OMIM:222470
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuri... ORPHA:20
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Abnormality of the endocrine system, Hirsutism, Hyperostosis frontalis interna, Os... ORPHA:77296
Prolidase Deficiency
Systemic lupus erythematosus, Hepatomegaly, Anemia, Increased circulating antibody level, Skin ul... OMIM:170100
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circula... ORPHA:369
Johanson-Blizzard Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Sensorineural hearing impairment, Hypoproteinemia, Fail... ORPHA:2315
H Syndrome
Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Abnormal eyebrow morphology, Hypogonadism... ORPHA:168569
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased circulating I... ORPHA:83313
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hypog... OMIM:617872
Thrombocytopenia 1
Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating... OMIM:313900
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Bone cyst, Sensorineural hearing impairment, Hypercalcemia, Proteinuria, ... ORPHA:2668
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat... ORPHA:3202
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Low-set ears, Ascit... OMIM:235255
Hypophosphatasia, Infantile
Anemia, Unossified vertebral bodies, Hypercalciuria, Elevated plasma pyrophosphate, Elevated urin... OMIM:241500
Lesch-Nyhan Syndrome
Hematuria, Anemia, Hyperuricemia, Gout, Renal insufficiency ORPHA:510
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Wolcott-Rallison Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Hepato... ORPHA:1667
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase ... ORPHA:2959
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir... OMIM:618495
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Death in infancy OMIM:613869
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Liver Disease, Severe Congenital
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoprote... OMIM:619991
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody l... OMIM:613101
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:616026
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Mccune-Albright Syndrome
Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Hypophosphatemia, Polyostotic f... ORPHA:562
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Congenital Disorder Of Glycosylation, Type Iq
Elevated circulating hepatic transaminase concentration, Low-set ears, Dry skin, Eczematoid derma... OMIM:612379
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Ge... ORPHA:79083
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... OMIM:618982
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Camptodactyly, Renal hypoplasia, Anisocytosis, Failure... OMIM:604273
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased circulating... OMIM:278000
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating h... OMIM:232200
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Acute Adrenal Insufficiency
Delayed puberty, Decreased circulating cortisol level, Sparse axillary hair, Normocytic anemia, I... ORPHA:95409
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Livedoid Vasculopathy
Abnormal circulating lipid concentration, Skin ulcer, Anemia, Lupus anticoagulant, Pancytopenia, ... ORPHA:542643
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin ras... OMIM:603552
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Failure to thrive, Neutropenia, Absent circulating B cells OMIM:613501
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Hepatomegaly, Hypocalcemia, Abnormal renal morphology, Pancreatic lymphangie... ORPHA:1655
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Joint hypermobility, Distichiasis, Sideroblastic anemia, Hypochromic anemia, Fai... OMIM:600462
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Gaucher Disease Type 1
Delayed puberty, Decreased HDL cholesterol concentration, Increased circulating antibody level, A... ORPHA:77259
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sc... ORPHA:2137
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic t... ORPHA:284426
Propionic Acidemia
Hepatomegaly, Anemia, Pancreatitis, Increased level of hippuric acid in urine, Pancytopenia, Hype... OMIM:606054
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Simple Cryoglobulinemia
Pericarditis, Abnormality of the kidney, Chronic lymphatic leukemia, Monoclonal elevation of circ... ORPHA:91139
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Splenomegaly, Abno... OMIM:269840
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Leukocytosis, Hypoglycemia, Hyperammonemia, Hyperglycemia, Weight lo... ORPHA:134
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulatin... OMIM:304790
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperinsulinemia, Mater... OMIM:604367
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Renal... OMIM:241530
Congenital Erythropoietic Porphyria
Increased urinary porphobilinogen, Purple urine, Red-brown urine, Recurrent bacterial skin infect... ORPHA:79277
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Prot... OMIM:603278
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Abnormal circulating enzyme concentration or activity, Sensorineu... ORPHA:79237
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hyperphosphaturia, Hypophosphatemia... ORPHA:89937
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ... ORPHA:470
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr... ORPHA:98870
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Primary Membranoproliferative Glomerulonephritis
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:54370
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c... OMIM:613752
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Celiac Disease, Susceptibility To, 1
Rickets, Delayed puberty, Steatorrhea, Elevated circulating hepatic transaminase concentration, I... OMIM:212750
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural ... ORPHA:158048
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Incr... OMIM:259700
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone level, Hyper... OMIM:239200
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphat... OMIM:307800
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci... OMIM:300635
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... OMIM:251880
Aggressive Systemic Mastocytosis
Decreased liver function, Ascites, Abnormal mast cell morphology, Pathologic fracture, Osteolysis... ORPHA:98850
Wilson Disease
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ... OMIM:277900
Brucellosis
Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Anterior uveitis, Myocardi... ORPHA:1304
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Elevated circulating hepatic transaminase concent... ORPHA:275555
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red... OMIM:619381
Alg6-Cdg
Jaundice, Abnormal circulating enzyme concentration or activity, Low-set ears, Failure to thrive,... ORPHA:79320
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marro... ORPHA:699
Hypophosphatasia
Anemia, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurrent fractures ORPHA:436
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepati... OMIM:607765
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy OMIM:610992
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c... ORPHA:331206
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ascites, Siderobl... OMIM:617021
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... OMIM:620357
Cystinosis
Rickets, Delayed puberty, Hypokalemia, Nephropathy, Portal hypertension, Nephrogenic diabetes ins... ORPHA:213
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Sensorineural hearing impairment, Choles... OMIM:300972
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Prominent stem of antihelix, B lymphocytopenia, ... OMIM:619824
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased red blood cell count, Elevated plasma cell coun... ORPHA:90041
Oculoskeletodental Syndrome
Hepatomegaly, Hypocalcemia, Hypercalciuria, Elbow flexion contracture, Low posterior hairline, He... OMIM:618440
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Bacterial Toxic-Shock Syndrome
Scaling skin, Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, H... ORPHA:36234
Al Amyloidosis
Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Increased c... ORPHA:85443
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Reduced bone mineral density, Recurrent urinary tract infections, Joint stiffness, ... OMIM:620210
Immunodeficiency 23
Erythema, Joint hypermobility, Increased circulating IgG level, Sensorineural hearing impairment,... OMIM:615816
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Sensorineural heari... OMIM:239000
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Elevated circulating hepatic transaminase concentration, Cholestasis, Increased circ... ORPHA:79303
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Generalized Pustular Psoriasis
Cheilitis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reacti... ORPHA:247353
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Cardiomegaly, Jau... OMIM:620376
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp... OMIM:617093
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased speci... OMIM:614576
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Fibrodysplasia Ossificans Progressiva
Anemia, Limitation of joint mobility, Ectopic ossification in ligament tissue, Synostosis of join... ORPHA:337
Vitamin D-Dependent Rickets, Type 2A
Rickets, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Delayed epiphysea... OMIM:277440
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Elevated circulating hepatic trans... ORPHA:264580
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Syndromic Diarrhea
Panhypogammaglobulinemia, Splenomegaly, Lymphopenia, Brittle hair, Polycystic kidney dysplasia, W... ORPHA:84064
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Abnormal circulating lactate dehydrogenase concentration, Anemia of inadequate production, Poikil... ORPHA:67044
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Hypermanganesemia With Dystonia 1
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613280
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Increased circulat... ORPHA:158057
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... ORPHA:71275
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Failure to thrive, T... OMIM:615285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly, Ab... ORPHA:2204
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Elevated circulating hepatic transaminase co... OMIM:610377
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Sclerosing ch... ORPHA:562639
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, T lymphocytopenia, Enlarged tonsils, Type I diabetes mellitus, Psoriasiform dermati... OMIM:606367
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Elevated circulating hepatic transaminas... ORPHA:94093
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Generalized amino... OMIM:264700
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Tafro Syndrome
Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-r... ORPHA:457077
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Hepati... ORPHA:292
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Calv... OMIM:612714
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating... OMIM:617099
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Porphyria Cutanea Tarda
Scaling skin, Elevated circulating hepatic transaminase concentration, Increased urinary porphobi... ORPHA:101330
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, T lymp... OMIM:601457
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Hypothyroid... OMIM:256300
Gaucher Disease
Delayed puberty, Decreased HDL cholesterol concentration, Increased circulating antibody level, J... ORPHA:355
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Obesi... ORPHA:251004
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Ménétrier Disease
Hypochromic microcytic anemia, Giant hypertrophic gastritis, Hypoproteinemia, Weight loss, Hypoal... ORPHA:2494
Reni Syndrome
Hypertriglyceridemia, Sensorineural hearing impairment, Hypoglycemia, Focal segmental glomerulosc... OMIM:617575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Sensorineural hearing impairment, Elevated circulating creatine kinase co... OMIM:612073
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper... OMIM:214900
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dicarboxylic ... OMIM:605911
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Postinfectious Vasculitis
Increased circulating antibody level, Abnormal circulating protein concentration, Cytoplasmic ant... ORPHA:48435
Reticular Dysgenesis
Chronic otitis media, Skin ulcer, Anemia, Skin rash, Decreased circulating antibody level, Hearin... ORPHA:33355
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Decreased circulating cerulop... OMIM:242150
Diffuse Alveolar Hemorrhage
Decreased circulating complement C3 concentration, Anemia, Hematuria, Antiphospholipid antibody p... ORPHA:90060
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Brittle hair, Increased circulating IgA level, Low-set ears, Tiger tail ban... OMIM:616395
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto... OMIM:259720
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Failure to thri... OMIM:617744
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Idiopathic Non-Lupus Full-House Nephropathy
Decreased circulating complement C3 concentration, Acute kidney injury, Glomerular C3 deposition,... ORPHA:567544
3-Methylglutaconic Aciduria, Type V
3-Methylglutaconic aciduria, Hypospadias, Microvesicular hepatic steatosis, Elevated circulating ... OMIM:610198
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating hepatic transaminase concentration, Skin rash, Bone marrow hypocellularity, ... OMIM:615688
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ... ORPHA:157215
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Prolonged neonatal jaundice, Splenomegal... OMIM:619525
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Anemia, Severe periodontitis, Recurrent otitis media, Broad eyebrow, Small for gest... ORPHA:99843
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Failure to thrive, Hypophosphatemia, Spar... OMIM:600081
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Abnormal lym... OMIM:613953
Systemic Lupus Erythematosus 17
Decreased circulating complement C3 concentration, Systemic lupus erythematosus, Myelitis, Malar ... OMIM:301080
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Thick hair, Long eyelashes, Nephrotic syndrome, Bone marrow hypocellular... ORPHA:505248
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy OMIM:611722
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Low-set ears, Ascites, Failure to thrive, Splenomegaly... OMIM:608776
Forsythe-Wakeling Syndrome
Low-set ears, Decreased body weight, Osteoporosis, Nephrotic syndrome, Macrotia, Thrombocytopenia OMIM:613606
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anem... OMIM:617591
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Arthritis, Increased circulating IgA level, Skin rash,... OMIM:260920
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Chilblain Lupus
Systemic lupus erythematosus, Skin ulcer, Increased circulating antibody level, Antiphospholipid ... ORPHA:90280
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Classic Mycosis Fungoides
Hepatomegaly, Skin ulcer, Lymphadenopathy, Abnormality of the nail, Skin rash, Abnormal lymphocyt... ORPHA:2584
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hirsutism, Hepatosplenome... OMIM:612526
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Hepatomegaly, Myoglobinuria, Elevated circulating creatine kinase co... OMIM:251900
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a... OMIM:619743
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, A... OMIM:614732
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Type I diabetes mellitus,... ORPHA:436159
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... OMIM:301078
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon... OMIM:620282
Thymic Neuroendocrine Tumor
Osteopenia, Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell ... ORPHA:97289
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Glucagonoma
Steatorrhea, Neoplasm of the pancreas, Normochromic anemia, Skin rash, Ascites, Pituitary adenoma... ORPHA:97280
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline... ORPHA:263501
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating hepatic transaminase c... ORPHA:14
Vipoma
Neoplasm of the pancreas, Normochromic anemia, Ascites, Pituitary adenoma, Parathyroid adenoma, N... ORPHA:97282
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Dilated Cardiomyopathy With Ataxia
3-Methylglutaconic aciduria, Neonatal hypoglycemia, Elevated circulating hepatic transaminase con... ORPHA:66634
Orotic Aciduria
Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Avian Influenza
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Myelitis, Elevated ... ORPHA:454836
Immunodeficiency 62
B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec... OMIM:618459
Insulin Autoimmune Syndrome
Increased circulating antibody level, Fasting hypoglycemia, Nonketotic hypoglycemia, Arthralgia/a... ORPHA:411593
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Anemia, Increased bone mineral densi... OMIM:620366
Juvenile Paget Disease
Cranial hyperostosis, Hyperuricemia, Osteoporosis, Hearing impairment, Coarse metaphyseal trabecu... ORPHA:2801
Infantile Myofibromatosis
Abnormality of the kidney, Neoplasm of the pancreas, Skin ulcer, Abnormal hair morphology, Bone c... ORPHA:2591
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c... OMIM:248250
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Elevated... OMIM:619644
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Decreased circulating complement factor I concentration, Decrease... ORPHA:2134
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobe... ORPHA:98791
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:324737
Immunodeficiency 104
Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenomegaly, T lymphocytop... OMIM:608971
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul... ORPHA:449395
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia, Ly... OMIM:619773
Marburg Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sk... ORPHA:99826
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Renal Fanconi syndrome, Splen... OMIM:219800
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Transient hearing impairment, Th... ORPHA:448237
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration... OMIM:232240
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase... OMIM:613658
Myh9-Related Disease
Neutrophil inclusion bodies, Elevated circulating hepatic transaminase concentration, Giant plate... ORPHA:182050
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Autoimmunity, Sp... OMIM:614470
Isolated Agammaglobulinemia
Pneumonia, Skin ulcer, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnorma... ORPHA:229717
Dent Disease 1
Rickets, Low-molecular-weight proteinuria, Renal phosphate wasting, Delayed epiphyseal ossificati... OMIM:300009
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Relapsing Fever
Acute kidney injury, Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, E... ORPHA:91547
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c... OMIM:243700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Ascites, Increased circulating lactate dehydrogenase concentration... ORPHA:93552
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Acute kidney injury, Hematuria, C3 nephritic f... ORPHA:329918
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity, Hypoalbuminemia, Cardiomegaly, Craniosynostosis, Colitis ORPHA:88643
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... ORPHA:811
Felty Syndrome
Chronic otitis media, Sinusitis, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Osteoly... ORPHA:47612
Griscelli Syndrome
Abnormal circulating lipid concentration, Premature graying of hair, Jaundice, Hepatomegaly, Lymp... ORPHA:381
Polycythemia Vera
Acute leukemia, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hypertension, Portal vein throm... ORPHA:729
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentratio... OMIM:619423
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Failure to thrive, Lymphopenia, Absence of lymph node germi... ORPHA:277
Drug-Induced Lupus Erythematosus
Decreased circulating complement C3 concentration, Anemia, Hematuria, Elevated circulating C-reac... ORPHA:231111
Eosinophilic Gastroenteritis
Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic ... ORPHA:2070
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler... OMIM:235200
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... ORPHA:210110
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ... OMIM:615010
Iga Pemphigus
Skin vesicle, Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophi... ORPHA:555905
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Renal insufficiency, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatin... OMIM:619386
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Decreased HDL cholesterol concentration, Decreased glomerular filtratio... ORPHA:85450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
3-Methylglutaconic Aciduria Type 4
Decreased liver function, 3-Methylglutaconic aciduria, Hearing impairment, Failure to thrive, Thr... ORPHA:67048
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis, Cutaneous anergy, Abnormality of the endocrine system OMIM:114580
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hepatomegaly, Sensorineural hearing impairment, Elevated urine trihydroxycholestanoi... OMIM:266510
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Elevated urinary quinolinic acid level, Microcytic anemia, Lacticaciduria OMIM:618811
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Aicardi-Goutieres Syndrome 3
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplenomegaly, Ch... OMIM:610329
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal circulating enzym... ORPHA:79319
Dermatitis Herpetiformis
Erythema, Recurrent fractures, Autoimmunity, Eczematoid dermatitis, Abnormality of the thyroid gl... ORPHA:1656
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells OMIM:613493
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Hypophosphatemic rickets, Elevate... ORPHA:263455
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Joint hypermobility, Sterile abscess, Increased... OMIM:618282
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia,... ORPHA:667
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Lymphangiectasis, Steatorrhea, Hyperinsulinemic hypoglycemia, Proximal t... OMIM:602579
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Decreased... OMIM:616100
Auriculocondylar Syndrome 4
Apnea OMIM:620457
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
C1Q Deficiency 2
Recurrent otitis media, Anemia, Facial erythema, Elevated circulating C-reactive protein concentr... OMIM:620321
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Maturity-onset diab... ORPHA:324575
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Del... OMIM:300554
Sarcoidosis
Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodosum,... ORPHA:797
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Purpura, Complete or near-complete absence of specific antibody re... OMIM:613496
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Decreased circulating total IgM, Hypoparathyroidism, Congenital... ORPHA:369837
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuric... OMIM:174000
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Bone cyst, Abnormal bone structure, Nephrolithiasis, Coarse metaphyseal trabeculari... ORPHA:93160
Uremic Pruritus
Abnormal circulating cytokine concentration, Hypermagnesemia, Elevated total serum tryptase, Dry ... ORPHA:94059
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating antibody level, Reduced circulating transferrin concentration, D... ORPHA:90363
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG... OMIM:102700
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly OMIM:162830
Fanconi Renotubular Syndrome 1
Rickets, Low-molecular-weight proteinuria, Elevated circulating alkaline phosphatase concentratio... OMIM:134600
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Decreased glomerular filtrat... OMIM:613388
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly, Failure to thrive in infancy OMIM:619175
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Proteinuria OMIM:189800
Fibrous Dysplasia Of Bone
Precocious puberty in females, Abnormality of the endocrine system, Hypophosphatemia, Pathologic ... ORPHA:249
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hypoglycemia, Hepatomegaly, Failure to thrive ORPHA:67046
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Paraganglio... ORPHA:94080
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Ele... ORPHA:67
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu... OMIM:619048
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Acatalasemia
Severe periodontitis, Old-aged sensorineural hearing impairment, Reduced circulating catalase act... ORPHA:926
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Immunodeficiency 17
Autoimmune hemolytic anemia, Death in childhood, Decreased proportion of CD8-positive T cells, Ab... OMIM:615607
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus... ORPHA:2169
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concent... OMIM:613327
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Failure to thrive, Thrombocytopenia, Splenome... ORPHA:79312
Congenital Analbuminemia
Increased circulating antibody level, Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, ... ORPHA:86816
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hypercholesterolemia, Elevated circulating hepatic transaminase concent... OMIM:616829
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Hypocalcemic seizures, Decreased circulating... OMIM:612301
Pachydermoperiostosis
Hepatomegaly, Anemia, Abnormal cortical bone morphology, Seborrheic dermatitis, Arthritis, Abnorm... ORPHA:2796
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Glycogen Storage Disease V
Reduced muscle glycogen phosphorylase activity, Hyperuricemia, Myoglobinuria, Elevated circulatin... OMIM:232600
Fumarase Deficiency
Decreased fumarate hydratase activity, Bilateral fetal pyelectasis, Intrahepatic cholestasis, Hyp... OMIM:606812
Somatostatinoma
Steatorrhea, Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Medullary... ORPHA:97283
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased total ... ORPHA:309854
Sézary Syndrome
Nail dystrophy, Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte... ORPHA:3162
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of... ORPHA:227990
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Jaundice, Elevated circulating hepatic transaminase concentration, Flexion contr... OMIM:608093
Classic Galactosemia
Delayed puberty, Reduced bone mineral density, Elevated circulating hepatic transaminase concentr... ORPHA:79239
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Abnormal renal tubule morphology, Steatorrhea, Hypochromic microcytic ... ORPHA:440713
Coccidioidomycosis
Abnormality of the endocrine system, Skin rash, Granuloma, Pericarditis, Erythema nodosum, Osteol... ORPHA:228123
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Nail dystrophy, Anemia, Craniosynostosis, Onychogryposis, Decreased circulating antibody level, F... ORPHA:79396
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Hypercalciuria, Hearing impairment, Hyperphosphaturia, Hip contra... OMIM:156400
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Sensorineural hearing impairment, Hypergalactosemia, Failur... OMIM:230350
Linear Verrucous Nevus Syndrome
Abnormality of the kidney, Reduced bone mineral density, Sparse scalp hair, Hypophosphatemia ORPHA:2611
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Alopecia of scalp, Hepatomegaly, Perioral erythema, Dry skin, Impaired T cell function, Perianal ... OMIM:201100
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Hepatomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Increased circu... ORPHA:343
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Delayed puberty, Cheilitis, Abnormal circulating calcium-phosphate regulati... ORPHA:534
Immune Thrombocytopenia
Thrombocytopenia, Platelet antibody positive OMIM:188030
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:615158
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena... OMIM:137920
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Hearing impairment, Nephrotic syndrome, Renal tubu... OMIM:618349
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Intrahepatic ... OMIM:208085
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta