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
Failure to thrive, Nephrotic syndrome, Eosinophilic liver infiltration, Hepatosplenomegaly, Eosin... 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
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Inflammatory abnormality of the skin, Hypoprotein... ORPHA:398063
Glaucoma And Sleep Apnea
Sleep apnea OMIM:137763
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Immunodeficiency 64
Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphadenopathy, Anti-... OMIM:618534
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Elevated circulating C-reactive protein concentratio... OMIM:615559
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Pallor, Leukopenia, A... ORPHA:507
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... OMIM:601859
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Abnormalit... ORPHA:2298
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Hy... ORPHA:848
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Adamantinoma
Hypercalcemia ORPHA:55881
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... OMIM:618048
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Pancytopenia, Jaund... OMIM:603553
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Sparse hair, Rheumatoid factor positive, P... OMIM:615934
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Omenn Syndrome
Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Alopecia, Eosinophilia, Hypoplasi... OMIM:603554
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Decreased circulating IgG level, Elevated circulating C-reactive prote... OMIM:308240
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, ... OMIM:604416
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... ORPHA:158061
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Arthritis, I... ORPHA:37748
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Alopecia, Eczema, Decreased prealbumin level, Anti-thyroid peroxidase antibody positiv... ORPHA:37042
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypertrichosis, Elevated circulating C-reactive protein concentration, Elevated circulating amylo... OMIM:619750
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... OMIM:618987
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... OMIM:267700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Increased circulating IgA level, Elevated circulating C-reactive protein conce... OMIM:617388
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Hypomagnes... ORPHA:90362
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Abnormality of iron homeostasis, Skin ulcer, Jau... ORPHA:231226
Late-Onset Isolated Acth Deficiency
Graves disease, Decreased circulating cortisol level, Macrocytic anemia, Generalized bone deminer... ORPHA:199299
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Pallor, Organic aciduria, Decreased plas... OMIM:246450
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Typ... OMIM:616860
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Wiskott-Aldrich Syndrome
Eczema, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Immunodeficiency 76
Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminase, Microcyt... OMIM:619013
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... OMIM:615631
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Osteopeni... ORPHA:2088
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating anti... OMIM:226300
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microcyt... OMIM:618805
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia,... OMIM:232800
X-Linked Agammaglobulinemia
Alopecia, Abnormality of the tonsils, Skin ulcer, Weight loss, Osteomyelitis, Arthritis, Hepatiti... ORPHA:47
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Rheumatoid factor positive,... ORPHA:3261
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Osteopenia, Hyperproteinemia, ... ORPHA:29073
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Pruritus, Jaundice, Anticardiolipin IgG antibody positivity, ... ORPHA:64743
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Leukocytosis, Lymphadenitis, Elev... OMIM:615895
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Pericarditis, Sta... OMIM:619487
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Coarse hair, Enlarged kidney, Long eyelashes, Proteinuria, Bone marrow hypocellular... OMIM:617303
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Preeclampsia
Abnormality of the hepatic vasculature, Chronic kidney disease, Small for gestational age, Abnorm... ORPHA:275555
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... ORPHA:2442
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Alopecia, Dysgammaglobulinemia, Anemia, Ascites, Lympha... ORPHA:100025
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Eczema, Erythema, Abnormal circulating porph... ORPHA:79278
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Failure to thrive, Osteomyeli... OMIM:609628
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated cir... OMIM:614727
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adenoma, Enlarged kidney, Proteinuri... ORPHA:79259
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Hematuria, Weight loss, Hypercalcemia, Anemia, Thrombocyto... ORPHA:69077
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Renal insufficiency, Hypercalcemia, Ane... ORPHA:2123
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Death in childhood, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Alg12-Cdg
Abnormal pinna morphology, B lymphocytopenia, Complete or near-complete absence of specific antib... ORPHA:79324
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... ORPHA:443811
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Addison Disease
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... ORPHA:85138
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Otitis media, Alopecia, Hypergonadotrop... OMIM:203800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Abnormal hair quantity, Hypoproteinemia, Lymphopenia ORPHA:1116
Primary Biliary Cholangitis
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Pruritus, Jaundice, Gas... ORPHA:186
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspar... OMIM:257200
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Osteopenia, Proteinuria, Proximal tubu... OMIM:212065
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Increased circulating interleukin 8 concentration, Hepatomegaly, Elevated circula... OMIM:256040
Dengue Fever
Petechiae, Hepatomegaly, Hypoproteinemia, Skin rash, Leukopenia, Thrombocytopenia, Pruritus, Ascites ORPHA:99828
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... ORPHA:247598
Majeed Syndrome
Failure to thrive, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Leukocytosis, Spl... ORPHA:77297
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia, Neonatal hypoproteinem... OMIM:152800
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Polyuria, Leukopenia, Hyperechogenic k... OMIM:613845
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia, Absenc... OMIM:619924
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, A... ORPHA:369
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Low-set ears, Hepatomegaly, Cholestasis, Thrombocyto... OMIM:608104
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,... OMIM:618852
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Choles... ORPHA:172
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Increased... ORPHA:543
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Complete or nea... OMIM:610163
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Failure to thrive, Hypochromic anemia, Pallor, Papp... OMIM:600462
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Small for gestat... OMIM:224120
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Trichohepatoenteric Syndrome 1
Hepatomegaly, Sparse hair, Hepatic failure, Abnormality of the pancreas, Cholestasis, Hypermethio... OMIM:222470
Morgagni-Stewart-Morel Syndrome
Hirsutism, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoarthritis,... ORPHA:77296
H Syndrome
Hypertrichosis, Alopecia, Enlarged kidney, Osteolysis, Hypogonadism, Microcytic anemia, Diabetes ... ORPHA:168569
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Thrombocytopenia 1
Joint hemorrhage, Petechiae, Increased circulating IgA level, Eczema, Congenital thrombocytopenia... OMIM:313900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Low-frequency sensorineural hearing impair... OMIM:613101
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammon... ORPHA:20
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Bone cyst, Proteinuria, Renal insufficiency, Hypercalcemia, Glo... ORPHA:2668
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration... ORPHA:2959
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Failure to thrive, Exocrine pancreatic insufficiency, Hypoplasi... ORPHA:2315
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertrichosis, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepatic failure, Micro... OMIM:235255
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Hyperu... OMIM:617056
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Lesch-Nyhan Syndrome
Gout, Hematuria, Renal insufficiency, Hyperuricemia, Anemia ORPHA:510
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Osteopenia, Cholestasis, Chronic ... ORPHA:171
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Neutropenia in pres... OMIM:613179
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypothyroidism, Microcytic anem... OMIM:251900
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Chronic kidney disease, Hepatomegaly, Hyperbilirubinemia, Lymp... ORPHA:1667
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Hy... ORPHA:79083
Boutonneuse Fever
Petechiae, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased ci... ORPHA:83313
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Hypertrichosis, Cutis laxa, Eczema, Dry skin, Elevated hepatic transaminase, M... OMIM:612379
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Prolidase Deficiency
Increased circulating antibody level, Failure to thrive, Petechiae, Hepatomegaly, Systemic lupus ... OMIM:170100
Mccune-Albright Syndrome
Pancreatitis, Abnormal endocrine physiology, Cholestasis, Hepatocellular adenoma, Increased circu... ORPHA:562
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Hepatomegaly, Aminoaciduria, Flexion contracture, Anisocytosis, Camptodactyly,... OMIM:604273
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Increased circulating renin level, Androgen insufficiency, ... ORPHA:95409
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Increased circ... ORPHA:86841
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... OMIM:619991
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Elevated circulating alkaline phosphatase concentr... OMIM:616026
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Anemia, Stage 5... OMIM:603278
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... OMIM:603552
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Livedoid Vasculopathy
Graves disease, Systemic lupus erythematosus, Leukocytosis, Abnormal circulating lipid concentrat... ORPHA:542643
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urin... OMIM:618495
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria OMIM:314000
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Anemia of inadequate production, In... ORPHA:3202
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Lipodystrophy, Familial Partial, Type 3
Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Decreased HDL cholesterol conc... OMIM:604367
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Rheumatoid factor positive, Prote... ORPHA:91139
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Poems Syndrome
Increased circulating antibody level, Sclerosis of skull base, Hypertrichosis, Sclerosis of foot ... ORPHA:2905
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Pustule, Elevated creatine kinase after exercise, Elevated hepatic transa... ORPHA:284426
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Osteomal... ORPHA:89937
Brucellosis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, ... ORPHA:1304
Autoimmune Hepatitis
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... ORPHA:2137
Hypophosphatasia, Infantile
Failure to thrive, Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossificat... OMIM:241500
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Recurrent fractures, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomega... OMIM:239200
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Inflammatory abnormality of the skin, Hypoproteinemia, Hyperammonemia... ORPHA:26793
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Spl... OMIM:259700
Congenital Erythropoietic Porphyria
Anisocytosis, Osteopenia, Facial hypertrichosis, Osteolysis, Reduced haptoglobin level, Pruritus,... ORPHA:79277
Propionic Acidemia
Failure to thrive, Neutropenia, Pancreatitis, Hepatomegaly, Hyperglycinuria, Hyperammonemia, Prop... OMIM:606054
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepatic failure, Micro... ORPHA:1655
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Failure to thrive secondary to recurrent infections, B lymphocytopenia, T lymp... OMIM:601457
Beta-Ketothiolase Deficiency
Ketonuria, Hepatomegaly, Leukocytosis, Hyperammonemia, Pallor, Hypoglycemia, Thrombocytosis, Hype... ORPHA:134
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy OMIM:610992
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... ORPHA:158048
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619658
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Alg6-Cdg
Increased circulating androgen concentration, Failure to thrive, Abnormal enzyme/coenzyme activit... ORPHA:79320
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... ORPHA:331206
Galactokinase Deficiency
Sensorineural hearing impairment, Increased level of galactitol in urine, Failure to thrive, Hype... ORPHA:79237
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Pallor, Anisocytosis, Elevated hepatic tra... ORPHA:98870
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Aggressive Systemic Mastocytosis
Elevated circulating alkaline phosphatase concentration, Maculopapular exanthema, Increased propo... ORPHA:98850
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla... OMIM:615285
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... ORPHA:699
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Abnormal abdomen morphology, Hypophosphatemic rickets, Hypophosphatemia,... OMIM:241530
Bacterial Toxic-Shock Syndrome
Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic arthritis,... ORPHA:36234
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, W... OMIM:619381
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Hypercalcemia, Anemia, Failure to thrive in infancy ORPHA:436
Al Amyloidosis
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Elevated circulating alka... ORPHA:85443
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Mic... ORPHA:54057
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... OMIM:300400
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Celiac Disease, Susceptibility To, 1
Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Thyroiditis, Steatorrhea, Alope... OMIM:212750
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:300972
Cystinosis
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, H... ORPHA:213
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Eczema, Autoimmune t... OMIM:304790
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, C3 nephritic factor po... ORPHA:54370
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... OMIM:607765
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Abnormal bone structure, Anemia ORPHA:46532
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Sensorineural hearing impairment, Elev... OMIM:239000
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Gastritis, Panhypogammaglobulinemia, Abnormality of iron homeostasi... ORPHA:84064
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Low anterior hairline, Splenomegaly, Renal agenesis, Small for gestat... OMIM:618440
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive... OMIM:617241
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Increased body weight, Portal fibrosis, Renal ... ORPHA:264580
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Decreased mean corpuscular volume, Failure to thrive, Microvesicular hep... OMIM:618278
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... ORPHA:293964
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I... ORPHA:276
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Elevated ... OMIM:614576
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Cystic Echinococcosis
Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia... ORPHA:400
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Decreased circulating IgG level, Acute hepatic fa... OMIM:613070
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Hepatic failure, Skin rash, Leukopenia, Cholestasis, Abnormal macro... ORPHA:292
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Thrombocytopenia, Arthritis, Inc... OMIM:210250
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Gaisböck Syndrome
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Gout, Increased circulating r... ORPHA:90041
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... OMIM:612714
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Type I diabetes mellitus, Erythroderma, Decreased proportion of CD4+CD... OMIM:606367
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Failure to thrive, Delayed epiphyseal ossification, Hypophosphatem... OMIM:277440
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Pallor, Increased urinary glycerol, Neonatal hyp... ORPHA:348
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepa... ORPHA:79303
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H... OMIM:613280
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Hepatomegaly, Elev... OMIM:613011
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Intrauterine growth retardation, Neonatal death OMIM:301021
Immunodeficiency 23
Sensorineural hearing impairment, Failure to thrive, Conductive hearing impairment, Lymphopenia, ... OMIM:615816
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating alkaline phosphatase concentration, Cholestasis, Antimitochondrial antibody ... ORPHA:562639
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse... OMIM:617575
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... OMIM:618944
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of the urinary system, Ab... ORPHA:2204
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Increased circulating IgA le... OMIM:617099
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Failure to thrive, Delayed epiphyseal ossification, Hypophosphatem... OMIM:264700
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Leukocytos... ORPHA:94093
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Positive direct... ORPHA:71275
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mastocytosis
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Chronic leukemia, Hy... ORPHA:98292
Mevalonic Aciduria
Failure to thrive, Fluctuating hepatomegaly, Low-set ears, Elevated circulating C-reactive protei... OMIM:610377
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... ORPHA:251004
Hepatocellular Carcinoma
Hepatomegaly, Weight loss, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hyponatre... ORPHA:88673
Blue Diaper Syndrome
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated hepatic transaminase, El... ORPHA:94086
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Diffuse me... OMIM:256300
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Giant hypertrophic gastritis, Hypoalbuminemia, We... ORPHA:2494
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:607271
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hypertrichosis, Decreased hepcidin level, Increased... ORPHA:101330
Forsythe-Wakeling Syndrome
Decreased body weight, Nephrotic syndrome, Osteoporosis, Macrotia, Low-set ears, Thrombocytopenia OMIM:613606
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Hypertrichosis, Nephrotic syndrome, Decreased circulating IgG level, Thick hair,... ORPHA:505248
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Hematuria, Inc... ORPHA:48435
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Failure to thrive, Sinusitis, Hepatomegaly, Lymphopenia, Fl... OMIM:617591
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intes... OMIM:617718
Leukocyte Adhesion Deficiency Type Ii
Keratitis, Failure to thrive, Conductive hearing impairment, Low anterior hairline, Abnormal isoh... ORPHA:99843
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypop... ORPHA:157215
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, P... ORPHA:90280
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hy... OMIM:612526
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment, Failure to thrive, Sparse hair, Alopecia, Cirrhosis, Fragile na... OMIM:242150
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated circulating aspar... OMIM:619525
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Hepatic failure, Extr... OMIM:259720
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Decreased serum complement C3, Complement deficiency, Decreased se... ORPHA:567544
Glucagonoma
Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Increased circulating prolactin concentration,... ORPHA:97280
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymph... ORPHA:277
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Splenomegaly, Alopecia, Eczema, Erythema, Dry skin, Abnormality of the n... ORPHA:2584
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Elevated alkaline phosphatase of bone o... OMIM:613388
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Reticular Dysgenesis
Failure to thrive, Skin rash, Leukopenia, Chronic otitis media, Abnormality of neutrophils, Heari... ORPHA:33355
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Low-set ears, Increased circulating IgA level, Lymphopenia, Brittle hair, Tige... OMIM:616395
Vipoma
Hepatomegaly, Adrenocortical adenoma, Increased circulating prolactin concentration, Weight loss,... ORPHA:97282
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... OMIM:260920
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... OMIM:214900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Craniosynostosis, Micropenis, Hypospadias,... OMIM:614732
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Eczema, Type I diabetes mell... OMIM:615688
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia... ORPHA:411593
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat... ORPHA:171706
Combined Oxidative Phosphorylation Deficiency 55
High-frequency hearing impairment, Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, St... OMIM:619743
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypoplasia of penis, Hypochromic microcytic anemia, Elevated ci... ORPHA:66634
Abetalipoproteinemia
Hepatomegaly, Steatorrhea, Osteopenia, Reticulocytosis, Cardiomegaly, Abnormal circulating apolip... ORPHA:14
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome... OMIM:301078
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Hep... OMIM:619644
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Increased circulating I... OMIM:619773
Atypical Hemolytic Uremic Syndrome
Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ... ORPHA:2134
Marburg Hemorrhagic Fever
Pancreatitis, Maculopapular exanthema, Elevated circulating creatinine concentration, Uveitis, Re... ORPHA:99826
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Rec... OMIM:600081
Immunodeficiency 43
Bronchiectasis, Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Skin ulcer, Blepharitis, Conjunctivitis, Inflammation of the lar... ORPHA:906
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Recurrent skin infections, Decreased serum cr... OMIM:617744
Fumarase Deficiency
Failure to thrive, Aminoaciduria, Hyperbilirubinemia, Hepatic failure, Polycythemia, Pallor, Chol... OMIM:606812
Srd5A3-Cdg
Hypertrichosis, Decreased response to growth hormone stimulation test, Hypothyroidism, Elevated h... ORPHA:324737
Juvenile Paget Disease
Recurrent fractures, Osteoporosis, Hearing impairment, Hyperuricemia, Coarse metaphyseal trabecul... ORPHA:2801
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, Hypospadias, Low-set, ... ORPHA:98791
Infantile Myofibromatosis
Neoplasm of the pancreas, Bone cyst, Abnormality of the kidney, Osteolysis, Hypercalcemia, Skin u... ORPHA:2591
Myh9-Related Disease
Sensorineural hearing impairment, Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital... ORPHA:182050
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Lymphadenopathy, T lymphocytopenia, Splenome... OMIM:608971
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Osteopenia, Eczema, Aplastic anemia... ORPHA:811
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Thrombocytopenia, Arthritis, Increased circulating ... ORPHA:448237
Felty Syndrome
Hepatomegaly, Osteolysis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Lymph... ORPHA:47612
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Type I diabetes ... OMIM:614700
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Leukocytosis, Decreased serum complement C3, Decreased seru... ORPHA:90060
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine... OMIM:619386
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Failure to thrive, Delayed epiphyseal ossification, Hypophosphatem... ORPHA:289157
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Delayed epiph... OMIM:300009
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... OMIM:205950
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, A... ORPHA:2070
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Craniosynostosis, Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Orotic Aciduria
Hypochromia, Failure to thrive, Oroticaciduria, Folate-unresponsive megaloblastic anemia, Anisocy... OMIM:258900
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia, Proteinuria OMIM:189800
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Systemic lupus erythematosus, Alopecia, Decreased serum complement C... OMIM:301080
Drug-Induced Lupus Erythematosus
Petechiae, Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, ... ORPHA:231111
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Failure to thrive, Hypoglycemia, 3-Methylglutaconic aciduria, Hearing i... ORPHA:67048
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Omenn Syndrome
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Alopecia, Aplasi... ORPHA:39041
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatome... OMIM:619423
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... OMIM:235200
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Alopecia, Decreased serum complement C4, Hematuria, Proteinuria, Microangiopa... ORPHA:93552
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Increased bone mineral density, Splenomegaly,... ORPHA:77259
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... OMIM:240500
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Abnormal... ORPHA:446
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... ORPHA:263455
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Abnormal enzyme/coenzyme activity, Splenomegaly, Ketotic hy... ORPHA:79240
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hyp... ORPHA:79319
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration... ORPHA:381
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cir... OMIM:602579
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Elevated circulating alkaline phosphatase... ORPHA:210110
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Hypocalcemia, Hypophosphatemia, Hepatomegaly, Abnormality of hair texture, S... ORPHA:667
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ... OMIM:616100
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... ORPHA:324575
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Flexion contracture, Hepatic failure, ... ORPHA:367
Q Fever
Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Hematuria, Myocarditis, Antimi... ORPHA:781
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnor... ORPHA:229717
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Candidiasis, Familial, 1
Abnormality of the endocrine system, Cutaneous anergy, Chronic mucocutaneous candidiasis, Alopecia OMIM:114580
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Weight loss,... OMIM:219800
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormality of... ORPHA:91547
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Cholestasis, Thin bony cortex, Pancytopenia, Bile duct proliferation, Slender build, ... OMIM:613658
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia, Chilblains OMIM:610329
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Elevated circulating alkaline phosphatase concentration, Leukocytosis, Constrictiv... ORPHA:67
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Cog4-Cdg
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ... ORPHA:263501
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... OMIM:102700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, E... OMIM:619048
Immunodeficiency 57 With Autoinflammation
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Perianal abscess, Reduced natural killer... OMIM:618108
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... OMIM:300554
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Alopecia, Osteom... ORPHA:93160
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Ost... OMIM:612301
Somatostatinoma
Medullary thyroid carcinoma, Hepatomegaly, Steatorrhea, Adrenocortical adenoma, Increased circula... ORPHA:97283
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Reduced circulating transferrin concentration, Lymphopenia, Seco... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Dermatitis Herpetiformis
Recurrent fractures, Eczema, Erythema, Microcytic anemia, Autoimmunity, Pruritus, Skin vesicle ORPHA:1656
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Craniosynostosis, Recurrent skin infections, Alopecia, Erythema, Decreased cir... ORPHA:79396
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Sarcoidosis
Bone cyst, Hepatomegaly, Hepatic failure, Alopecia, Maculopapular exanthema, Thrombocytopenia, Uv... ORPHA:797
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... OMIM:307800
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Alopecia, Decreased circulating cortisol level, Sev... ORPHA:293978
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria, Failure to thrive, Microcytic anemia OMIM:618811
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Decreased circulating IgA level, Precocious puberty, Congenital megaureter, C... ORPHA:369837
Pachydermoperiostosis
Osteomyelitis, Hepatomegaly, Eczematoid dermatitis, Abnormal hair quantity, Splenomegaly, Anemia,... ORPHA:2796
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... OMIM:174000
Uremic Pruritus
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... ORPHA:94059
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Jaundice, Flexion contracture, Hypoproteinemia OMIM:608093
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Glutaric aciduria, Norm... OMIM:610198
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Failure to thrive, Hepatomegaly, Steatorrhea, Osteoporosis, Hyp... OMIM:266510
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Decreased circulating IgA level, Hirsutism, Hepatomegaly, Hyperinsulinemia, Fl... OMIM:613327
Fibrous Dysplasia Of Bone
Elevated circulating alkaline phosphatase concentration, Thin bony cortex, Abnormal bone structur... ORPHA:249
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Elevated circulating alkaline phosphatase ... OMIM:156400
Acatalasemia
Old-aged sensorineural hearing impairment, Type II diabetes mellitus, Severe periodontitis, Micro... ORPHA:926
Sézary Syndrome
Hepatomegaly, Splenomegaly, Alopecia, Dry skin, Abnormal immunoglobulin level, Nail dystrophy, Pr... ORPHA:3162
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Congenital Analbuminemia
Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Small for gestational age,... ORPHA:86816
Coccidioidomycosis
Pancreatitis, Abscess, Osteolysis, Pneumonia, Pruritus, Pericarditis, Lymphadenopathy, Abnormalit... ORPHA:228123
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Abnormality of the kidney, Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sensorineural hearing impairment, Aminoaciduria, Brittle hair, Splenomegaly, Schistocytosis, B ly... OMIM:616084
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Non-Functioning Paraganglioma
Conductive hearing impairment, Pulsatile tinnitus, Elevated urinary dopamine, Paraganglioma of he... ORPHA:94080
Immunodeficiency 69
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Skin... OMIM:618963
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Perioral erythema, Hepatomegaly, Decreased serum testosterone concentration, S... OMIM:201100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Leukopenia... OMIM:251000
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Osteoporosi... ORPHA:2169
Lathosterolosis
Conductive hearing impairment, Elevated circulating alkaline phosphatase concentration, Hyperbili... OMIM:607330
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Platelet antibody positive OMIM:188030
Classic Galactosemia
Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Reduced bone mineral density, A... ORPHA:79239
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Gout, Biliary tract abnormality, Pancreatic hypopl... OMIM:137920
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Splenomegaly, Renal insufficiency,... ORPHA:79312
Specific Granule Deficiency 2
Nail dysplasia, Failure to thrive, Abnormal pinna morphology, Low-set ears, Recurrent otitis medi... OMIM:617475
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Hepatomegaly, Peritonitis, Erythema, Arthritis, Purpura, Recurre... ORPHA:343
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Galactosemia Iii
Sensorineural hearing impairment, Failure to thrive, Hepatomegaly, Aminoaciduria, Decreased beta-... OMIM:230350
Combined Oxidative Phosphorylation Deficiency 36
Sensorineural hearing impairment, Failure to thrive, Elevated circulating aspartate aminotransfer... OMIM:617950
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Flexion contracture, Steatorrhea, Abnormal... ORPHA:440713
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Alopecia, Atrophic gastritis, Recurrent sinusitis, Decreased circulati... OMIM:616576
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Absence of lymph node germinal center, Panhypogammaglobulinemia, Urinary retention,... ORPHA:79124
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fanconi-Bickel Syndrome
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Elevated circulating... OMIM:227810
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Decreased circulating ferritin concentration, Hepa... ORPHA:309854
Klippel-Trénaunay Syndrome
Microcytic anemia, Ascites, Hepatomegaly, Hematuria ORPHA:90308
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Nephrotic syndrome, Small for gestational age, Generalized bone ... OMIM:215250
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Rheumatoid arthriti... ORPHA:227990
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, P... OMIM:269840
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Pancytopenia, Rhini... ORPHA:572
Tempi Syndrome
Increased hematocrit, Polycythemia, Abnormality of the kidney, Increased circulating IgG level, F... ORPHA:284227
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Recurrent fractures, Eczematoid dermatitis, Skin rash, Craniosynostosis, Osteo... OMIM:147060
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Cheilitis, Hypoammonemia, Hematuria, Protein... ORPHA:534
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Hypocalcemia, Osteo... ORPHA:53
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Immunodeficiency 17
Failure to thrive, Death in childhood, T lymphocytopenia, Decreased proportion of CD8-positive T ... OMIM:615607
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Methylmalonic acid... ORPHA:859
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Increased circulating lactate dehyd... ORPHA:3203
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Proteus Syndrome
Lymphangioma, Calvarial hyperostosis, Splenomegaly, Thin bony cortex, Mandibular hyperostosis, Fa... OMIM:176920
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, Hip contracture, Elevated circulating alkaline phosphatase concentration, Thickene... OMIM:616809
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Renal tubular acidosis, Abnormal enzyme/coenzyme activity, Splen... ORPHA:370
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:444463
Dent Disease
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... ORPHA:1652
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... OMIM:615234
Cholestasis, Progressive Familial Intrahepati