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
Atopic dermatitis, Eosinophilic liver infiltration, Hypothyroidism, Hepatic cysts, Membranous nep... OMIM:618999

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Glaucoma And Sleep Apnea
Sleep apnea OMIM:137763
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Refractory Celiac Disease
Iron deficiency anemia, Osteoporosis, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Elevated h... ORPHA:398063
Immunodeficiency 64
Increased proportion autoreactive unresponsive CD21-/low B cells, Bronchiectasis, Increased circu... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Increased circulating antibody lev... ORPHA:507
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Hirsutism, Abnormal circulating lipid concentration, We... ORPHA:2298
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Reduced bon... ORPHA:848
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Neutropenia, Maculopapular exanthema, Ab... ORPHA:540
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Paratracheal lymphadenopathy, Erythema, Increased circulating IgG level, Joint stiffne... OMIM:615934
Adamantinoma
Hypercalcemia ORPHA:55881
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Arthritis, Cystic acne, Elevated circul... OMIM:604416
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Lymphadenopathy, Thrombocytop... OMIM:603554
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Anti-liver cytosolic antigen ... ORPHA:37042
Schnitzler Syndrome
Skin rash, Pruritus, Increased circulating IgM level, Leukocytosis, Increased bone mineral densit... ORPHA:37748
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Skin rash, Pancytopenia,... OMIM:603553
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Uveitis, Punctate kera... OMIM:617388
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased... ORPHA:169154
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Skin rash, Pancytopenia, Reduced natural killer cel... OMIM:616050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyperuricemia, Weight loss, Hypercalcemia, Eosinophilia, Adren... ORPHA:199299
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment OMIM:241520
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Elevated hepatic transamina... OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Macrotia, Hypergonadotropic hypogonadism, Hypothyr... OMIM:212065
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenom... OMIM:615631
Fanconi-Bickel Syndrome
Impaired glucose tolerance, Hypercalciuria, Rickets, Hepatic failure, Elevated circulating aspart... ORPHA:2088
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Elevated hepatic transaminase, Microcytic anemia, Hypothyroidism, Hepatic st... OMIM:619013
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Neutropenia, Weight loss, Sensorineural hearing impairment, Anemia, Sinu... ORPHA:47
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Hirsutism, Neutropenia, Coarse hair, Hypoalbuminemia, Anemia, L... OMIM:617303
Preeclampsia
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Acute kidney injury, Autoi... ORPHA:275555
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Death in childhood, Splenomegaly, Lymphadenopathy OMIM:619164
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Majeed Syndrome
Skin rash, Microcytic anemia, Flexion contracture, Erythroid hyperplasia, Delayed puberty, Failur... OMIM:609628
Multiple Myeloma
Acute kidney injury, Increased circulating IgA level, Elevated circulating creatinine concentrati... ORPHA:29073
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Decreased circulating antibody level, Pn... OMIM:226300
Autosomal Erythropoietic Protoporphyria
Pruritus, Cirrhosis, Microcytic anemia, Cholelithiasis, Erythema, Decreased liver function, Abnor... ORPHA:79278
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Osteoporosis, Hypocalcemia, Hypoproteinemia, Decreased circulating antibo... ORPHA:90362
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Increased circulating antibody level, Recurrent otitis... OMIM:618495
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Addison Disease
Generalized bone demineralization, Hyperuricemia, Weight loss, Sparse axillary hair, Delayed pube... ORPHA:85138
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Weight loss, Thrombocytopenia, Hypercalcemia, A... ORPHA:69077
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Alopecia, Lympha... ORPHA:100025
Alstrom Syndrome
Progressive sensorineural hearing impairment, Hyperuricemia, Renal insufficiency, Otitis media, H... OMIM:203800
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Death in childhood OMIM:200900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Xanthelasma, Thyroiditis, Hyperuricemia, Delayed puberty, Increased suscept... ORPHA:79259
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Weight loss, Nephropathy, Hepatom... ORPHA:100024
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Camptodactyly, Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver funct... OMIM:608104
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Abnormal hair quantity, Decreased circulating antibody level ORPHA:1116
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Impaired glucose tolerance, Elevated circulating thyroid-stimulating h... OMIM:256040
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Skin rash, Vacuolated lymphocytes, Recurrent bacter... ORPHA:167
Primary Biliary Cholangitis
Pruritus, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Jaundice, Hypo... ORPHA:186
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, C... ORPHA:90363
Dengue Fever
Skin rash, Hypoproteinemia, Pruritus, Thrombocytopenia, Hepatomegaly, Petechiae, Ascites, Leukopenia ORPHA:99828
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Lymphangiectasia, Intestinal
Abnormal hair morphology, Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG lev... OMIM:152800
Glycogen Storage Disease Ib
Osteoporosis, Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomer... OMIM:232220
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Hypercalcemia, Ascites, Anemia, Renal insufficiency, Renal hypopl... ORPHA:2123
Majeed Syndrome
Hypochromic microcytic anemia, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Conge... ORPHA:77297
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyperechogenic kidneys, Hyponatremia, Hyperuricemia, Polyuria, Renal salt wasting... OMIM:613845
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, Increased susceptibility to frac... ORPHA:231222
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Low-frequency sensorineural heari... OMIM:613101
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... OMIM:618852
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Increased circulating lactate dehydrogenase ... ORPHA:543
H Syndrome
Bronchiectasis, Camptodactyly, Histiocytosis, Delayed puberty, Hypertrichosis, Micropenis, Abnorm... ORPHA:168569
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Reduced bone mineral density, Jaundice, Failure to thriv... ORPHA:172
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Hypochromic anemia, Pappenheimer bodies, Microcytic... OMIM:600462
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Elevated hepatic transaminase, Joint laxity, Thrombocytopenia, Hepatomegaly, Poster... OMIM:614727
Primary Sclerosing Cholangitis
Pruritus, Polyclonal elevation of IgM, Thyroiditis, Weight loss, Jaundice, Hypoalbuminemia, Renal... ORPHA:171
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, 3-Methylglutaric aciduria, Recurrent... ORPHA:20
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Joint hemorrhage, Intermittent t... OMIM:313900
Progeria-Short Stature-Pigmented Nevi Syndrome
Progressive sensorineural hearing impairment, T lymphocytopenia, Low posterior hairline, Elevated... ORPHA:2959
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Cirrhosis, Abnormality of the kidney, Elevated hepatic transaminase, Hepatocellular... ORPHA:369
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Glomerulopathy, Sensorineural hearing impairment, Hypercalcemia, Anemia, Renal insuffi... ORPHA:2668
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Reduced level of N-a... OMIM:224120
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Neutropenia, Nephropathy, Gout, Renal cyst, Ch... OMIM:617056
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Hypoproteinemia, Elevated hepatic transaminase, ... ORPHA:247585
Lesch-Nyhan Syndrome
Hematuria, Hyperuricemia, Gout, Anemia, Renal insufficiency ORPHA:510
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Elevated hepatic transaminase, Exocrine pancreatic insuffi... ORPHA:1667
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hypothyroidism, Neutropenia, Hepatomegaly, Elevated circulating creatine kinas... OMIM:251900
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Sensorineural hearing impairment, Anemia, Splenomegaly ORPHA:294
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Elevated hepatic transaminase, Maculopapular exanthem... ORPHA:83313
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Neutropenia, Hypoalbuminemia OMIM:600351
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Thrombocy... OMIM:603552
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Mccune-Albright Syndrome
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... ORPHA:562
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Recurrent otitis media, Hirsutism, Neut... OMIM:617475
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Hyperuricemia, Insulin-resis... ORPHA:79083
Niemann-Pick Disease, Type A
Osteoporosis, Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentrati... OMIM:257200
Acute Adrenal Insufficiency
Sparse axillary hair, Hyperuricemia, Weight loss, Delayed puberty, Hypercalcemia, Decreased circu... ORPHA:95409
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Increased circulating lactate dehydrogenase concentration, ... ORPHA:86841
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Anemia, Hype... OMIM:603278
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia, Systemic lupu... OMIM:170100
Johanson-Blizzard Syndrome
Hypoproteinemia, Exocrine pancreatic insufficiency, Abnormality of the pancreas, Sensorineural he... ORPHA:2315
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia, Splenomegaly ORPHA:1802
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Failure to thrive in infancy, Hyperlipidemia... OMIM:232700
Livedoid Vasculopathy
Systemic lupus erythematosus, Graves disease, Leukocytosis, Autoimmunity, Polycythemia, Superfici... ORPHA:542643
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Hepatomegaly, Thyroid lymphangiectasi... OMIM:235255
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Osteopenia, Hepatosplenomegaly, Anemia OMIM:610539
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency OMIM:618222
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Congenital Erythropoietic Porphyria
Pruritus, Red-brown urine, Purple urine, Reticulocytosis, Recurrent bacterial skin infections, Le... ORPHA:79277
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos... ORPHA:331206
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ... OMIM:300635
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Craniosynostosis, Increased circulating lactate dehydrogenase concentration, Osteop... OMIM:259700
Autoimmune Hepatitis
Increased total bilirubin, Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, ... ORPHA:2137
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia, Rickets, Tooth abscess... ORPHA:89937
Poems Syndrome
Thrombocytosis, Sclerosis of hand bone, Primary adrenal insufficiency, Polycythemia, Hypothyroidi... ORPHA:2905
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Hirsutism, Hyperuricemia, Insu... OMIM:604367
Beta-Ketothiolase Deficiency
Thrombocytosis, Hyperglycemia, Leukocytosis, Hyperuricemia, Weight loss, Ketonuria, Hepatomegaly,... ORPHA:134
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Recurrent fractures, Aminoaciduria, Polyuria, Hepatomegaly, ... OMIM:239200
Hypophosphatasia, Infantile
Nephrocalcinosis, Craniosynostosis, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, ... OMIM:241500
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Proteinuri... ORPHA:470
Glycogen Storage Disease Ia
Osteoporosis, Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomer... OMIM:232200
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia, Cutis laxa, Hypertrichosis, Eczema OMIM:612379
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Scaling skin... ORPHA:36234
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, T lymphocytopenia, B lymphocytopenia, Failur... OMIM:601457
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Pruritus, Pustule, Acute kidney injury, Elevated hepatic transaminase, Super... ORPHA:284426
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Fetal ascites, Cholestasis,... ORPHA:292
Propionic Acidemia
Osteoporosis, Propionyl-CoA carboxylase deficiency, Hyperglycinemia, Neutropenia, Hypoglycemia, P... OMIM:606054
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Elevated gamma-glutamyltransferase level, Hepa... ORPHA:400
Al Amyloidosis
Abnormality of the kidney, Albuminuria, Increased circulating antibody level, Weight loss, Hepato... ORPHA:85443
Trichohepatoenteric Syndrome 1
Jaundice, Small for gestational age, Hypoalbuminemia, Galactosuria, Cirrhosis, Hypermethioninemia... OMIM:222470
Pearson Syndrome
Hypocalcemia, Proteinuria, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Small... ORPHA:699
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Inflammatory abnormality of the skin, Overweight, Elevated hepatic... ORPHA:26793
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Aggressive Systemic Mastocytosis
Pruritus, Neutropenia, Weight loss, Maculopapular exanthema, Pancytopenia, Pathologic fracture, D... ORPHA:98850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor, Abnormal bone structure ORPHA:46532
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Osteoporosis, Hypocalcemia, Thrombocytosis, Elevated hepatic transaminase... OMIM:212750
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Scaling skin, Failure to thri... OMIM:606367
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Brucellosis
Pericarditis, Intrarenal abscess, Pneumonia, Weight loss, Increased circulating IgG level, Small ... ORPHA:1304
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Renal phosphate wasting, Rickets, Abnormal abdomen morphology, Hypophosphatemic... OMIM:241530
Syndromic Diarrhea
Panhypogammaglobulinemia, Small for gestational age, Cirrhosis, Hypoplasia of the thymus, Trichor... ORPHA:84064
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma... ORPHA:98870
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Abnormal renal morphology, Hepatomega... ORPHA:1655
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Anemia, Elevated circulating creatine kinase concentration... ORPHA:264580
Hypophosphatasia
Craniosynostosis, Recurrent fractures, Failure to thrive in infancy, Hypercalcemia, Anemia ORPHA:436
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Lymphadenopathy, Splenome... OMIM:608971
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Elevated hepatic transaminase, Decreased specific... OMIM:614576
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Hypothyroidism, Lymphopenia, Hypoglycemia, Adrenal insufficie... OMIM:617575
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Rickets, Intrahepatic cholestasis... OMIM:607765
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Failure to thrive, Sple... OMIM:269840
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Abnorma... ORPHA:67044
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Elevated hepatic transaminase, Leukocytosis, T... ORPHA:340
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Enlarged kidney, Thick hair, Flexion contracture, Long eyelashes... ORPHA:505248
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Polycythemia, He... OMIM:613280
Oculoskeletodental Syndrome
Hypocalcemia, Low anterior hairline, Low posterior hairline, Mucopolysacchariduria, Hypothyroidis... OMIM:618440
Immunodeficiency 23
Joint hypermobility, Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE... OMIM:615816
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaund... OMIM:612714
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Pruritus, Interface hepatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sclerosin... ORPHA:562639
Cystinosis
Hypophosphatemia, Renal insufficiency, Nephrogenic diabetes insipidus, Rickets, Hypothyroidism, A... ORPHA:213
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Failure to thrive in infa... OMIM:617099
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating al... OMIM:300555
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Elevated hepatic transaminase, Acute kidney injury, Leukocytosis, H... ORPHA:94093
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Cirrhosis, Joint laxity, Elevated hepatic transaminase, Rickets, Hep... OMIM:613658
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Abnormal cortical bone morphology, Increased bone mineral dens... ORPHA:2204
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Elevated hepatic transaminase, Leukocytos... OMIM:610377
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Autoimmunity, Lymphopenia, Decreased c... OMIM:617780
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Hy... ORPHA:348
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Recurrent fractures, Hyperuricemia... OMIM:239000
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Glomerular sclerosis, Renal tubular atrophy, Small for gestation... OMIM:256300
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Increased circulating antibody level, Lymphopenia, Flex... OMIM:617591
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M proteinemia, Cryogl... ORPHA:209004
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Respiratory failure OMIM:301021
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, Re... ORPHA:101330
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Sparse bone trabeculae, Rickets, Recurrent fractures, Elevated circulating alka... OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Sparse bone trabeculae, Rickets, Generalized aminoaciduria, Recurrent fractures... OMIM:264700
Abetalipoproteinemia
Reticulocytosis, Hypoalbuminemia, Anemia, Cardiomegaly, Abnormal circulating apolipoprotein conce... ORPHA:14
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Leukocytosis, Increased circulating IgA level, Re... OMIM:260920
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Elevated circulating creatinine concentration, Decre... ORPHA:567544
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hirsutism, Hepatomegal... OMIM:612526
Mastocytosis
Osteoporosis, Pruritus, Chronic leukemia, Recurrent fractures, Hepatomegaly, Hypercalcemia, Splen... ORPHA:98292
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... OMIM:617718
Forsythe-Wakeling Syndrome
Osteoporosis, Macrotia, Decreased body weight, Thrombocytopenia, Nephrotic syndrome OMIM:613606
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Decreased circulating parathyroid hormone level, Hyperphosphaturia, Hypophospha... ORPHA:157215
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormality of the nail, Abnormal lymphocyte morphology, Erythema, Hepatomeg... ORPHA:2584
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Pruritis on hand, ... ORPHA:90280
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hypoa... OMIM:602579
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Leukocyte Adhesion Deficiency Type Ii
Low anterior hairline, Small earlobe, Severe periodontitis, Recurrent pneumonia, Abnormal isohema... ORPHA:99843
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Craniosynostosis, Increased blood urea nitrogen, Enlarged kidney, Prot... ORPHA:251004
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Renal insufficiency, Rickets, Generalized aminoaciduria, Proximal tubulopathy, ... OMIM:613388
Glucagonoma
Skin rash, Pruritus, Adrenocortical adenoma, Elevated circulating growth hormone concentration, I... ORPHA:97280
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Failure to thrive, Absence of lymph node germi... ORPHA:277
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Generalized lym... OMIM:614700
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Giant hypertrophic gastritis, Hypoal... ORPHA:2494
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia, Insulin resist... ORPHA:411593
Vipoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97282
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Decreased serum complement fac... ORPHA:2134
Srd5A3-Cdg
Elevated hepatic transaminase, Microcytic anemia, Hypothyroidism, Hypertrichosis, Decreased respo... ORPHA:324737
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Abnormality of mesentery morphology, Hematuria, Acute kidney in... ORPHA:449395
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Anemia, Leukopeni... OMIM:615688
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Low-set, posteriorly rotated ears, Flexion contracture, Aplasia/Hypoplasia of ... ORPHA:98791
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteopetrosis, Pancytopenia, Thro... OMIM:259720
Immunodeficiency 43
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Bronchiectasis OMIM:241600
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Weight loss, Jaundice, Hypercalcemia, Hypoalbu... ORPHA:88673
Juvenile Paget Disease
Osteoporosis, Recurrent fractures, Hyperuricemia, Coarse metaphyseal trabecularization, Cranial h... ORPHA:2801
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, N... ORPHA:66634
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Sinus... ORPHA:811
Felty Syndrome
Pericarditis, Recurrent urinary tract infections, Neutropenia, Weight loss, Anemia, Sinusitis, Ly... ORPHA:47612
Myh9-Related Disease
Elevated hepatic transaminase, Congenital thrombocytopenia, Increased mean platelet volume, Nephr... ORPHA:182050
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia, Aminoaciduria, Cholestasis, Hepatic failure, Failure to thrive,... OMIM:606812
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Leukocytosis, Weight loss, Steatorrhea, Hypoalbuminemia, An... ORPHA:2070
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Elevated circulating creatinine concentration, Decr... ORPHA:329918
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine... OMIM:619386
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neutrophils, Decreased cir... ORPHA:381
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, R... OMIM:300009
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Diffuse Alveolar Hemorrhage
Hematuria, Antineutrophil antibody positivity, Leukocytosis, Autoimmunity, Elevated circulating c... ORPHA:90060
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase, Proteinuria OMIM:189800
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Elevated hepatic transamin... ORPHA:263455
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Thrombocytopenia, Hearing impairment, Decreased liver function, Failure to thrive, ... ORPHA:67048
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:615846
Infantile Myofibromatosis
Abnormality of the kidney, Osteolysis, Abnormal hair morphology, Bone cyst, Hypercalcemia, Neopla... ORPHA:2591
Drug-Induced Lupus Erythematosus
Serositis, Hematuria, Increased blood urea nitrogen, Pericarditis, Decreased serum complement C4,... ORPHA:231111
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Sparse bone trabeculae, Rickets, Generalized aminoaciduria, Eleva... ORPHA:289157
Avian Influenza
Myelitis, Elevated hepatic transaminase, Acute kidney injury, Lymphopenia, Increased circulating ... ORPHA:454836
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Rickets, Recurrent fractures, Elevated circulating alkaline phosphatase concent... OMIM:600081
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Colitis, Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly, Obesity ORPHA:88643
Gaucher Disease Type 1
Cirrhosis, Osteolysis, Hematuria, Biliary tract obstruction, Increased circulating antibody level... ORPHA:77259
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Increased circulating cortisol level, Pituitary prolactin cell adenoma, ... ORPHA:97289
Hemochromatosis, Type 1
Osteoporosis, Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transamin... OMIM:235200
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Orotic Aciduria
Hypochromia, Hematuria, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell f... OMIM:258900
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Acute colitis, Constrictive pericarditis, Elevated hepatic transaminase, Leukocytos... ORPHA:67
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Decreased serum complement C4, Discoid lupus rash, Leukopenia, Renal insuff... ORPHA:93552
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Decreased circulating antibody level, Erythema, Hypoalbuminemia, Failure to thr... ORPHA:79396
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... OMIM:240500
Omenn Syndrome
Pruritus, Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Autoimmunity, Abnormal lymphocyte morp... ORPHA:39041
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains, Elevated hepatic transaminase OMIM:610329
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Alopecia, Abnormality of the endocrine system OMIM:114580
Dermatitis Herpetiformis
Pruritus, Microcytic anemia, Autoimmunity, Recurrent fractures, Erythema, Eczema, Skin vesicle ORPHA:1656
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steato... OMIM:613327
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Abnormal localization of kidney, Prol... ORPHA:446
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly, Elevated leukocyte alkaline phosphatase OMIM:162830
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Q Fever
Hematuria, Cryoglobulinemia, Pericarditis, Anticardiolipin IgG antibody positivity, Antimitochond... ORPHA:781
Wiskott-Aldrich Syndrome
Chronic leukemia, Neutropenia, Hyperostosis, Anemia, Sinusitis, Eczema, Acute leukemia, Otitis me... ORPHA:906
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Rickets, Hypophospha... OMIM:300554
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Flexion contracture, Hepatomegaly, Decreased liver func... ORPHA:367
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Elevated hepatic transaminase, T... ORPHA:263501
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Abnormality of the periungual region, Bronchiectasis, Decreased serum i... ORPHA:293978
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal tr... ORPHA:93160
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Cholesterol Pneumonia
Tachypnea, Cough, Death in infancy, Pneumonia OMIM:215030
Somatostatinoma
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:97283
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, ... ORPHA:555905
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Abnormality of the nail, Insulin resistance, Hypoglycemia, Truncal obesity,... ORPHA:181393
Acatalasemia
Severe periodontitis, Microcytic anemia, Type I diabetes mellitus, Old-aged sensorineural hearing... ORPHA:926
Isolated Agammaglobulinemia
Skin rash, Autoimmunity, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, T... ORPHA:229717
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Relapsing Fever
Increased total bilirubin, Hematuria, Elevated hepatic transaminase, Acute kidney injury, Leukocy... ORPHA:91547
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria, Failure to thrive, Microcytic anemia OMIM:618811
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Analbuminemia
Osteoporosis, Hypercholesterolemia, Elevated circulating transferrin concentration, Hypoalbuminem... OMIM:616000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase, Paronychia, Hepatomegaly, Impaired T cell function, Decreased serum tes... OMIM:201100
Pachydermoperiostosis
Osteoporosis, Seborrheic dermatitis, Osteolysis, Elevated circulating growth hormone concentratio... ORPHA:2796
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, Failur... OMIM:618108
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Hypoproteinemia, Flexion contracture, Elevated hepatic transaminase OMIM:608093
Fibrous Dysplasia Of Bone
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Patholog... ORPHA:249
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Failure to thrive, Anemia, Pancreatiti... ORPHA:79312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hypogonadism, Hepatomegaly, Anemia, Sp... OMIM:615234
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Craniosynostosis, Abnormality of hair texture, Recurrent fracture... ORPHA:667
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Hypermagnesemia, Increased blood urea nitrogen, E... ORPHA:94059
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Elevated circulating creatinine concentration, Impaire... OMIM:137920
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hyperphosphaturia, Elevated circulating alkaline phosphatase concentration, Hyp... OMIM:156400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Increased circulat... ORPHA:169160
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Aminoaciduria, Sideroblastic... OMIM:616084
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Nephrocalcinosis, Hyperphosphaturia, Rickets, Hypouricemia, Aminoaciduria, Hypoglycemia, Glycosur... OMIM:616026
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification, Anemia ORPHA:3319
Autoimmune Polyendocrinopathy Type 4
Leukopenia, Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopenia, Anterior ... ORPHA:227990
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Purpura, Erythema, Hepatomegaly, Increased circulating IgA level, Recurrent aphthous... ORPHA:343
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney, Sparse scalp hair ORPHA:2611
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Glutaric aciduria, 3-Methylglutaric aciduria, Normochromic micr... OMIM:610198
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Steatorrhea, Hypocholesterolemia, Hepatomegaly, Sensorineural hearing impairment, F... OMIM:266510
Coccidioidomycosis
Peritonitis, Skin rash, Pruritus, Pericarditis, Pneumonia, Abnormality of the bladder, Increased ... ORPHA:228123
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Platelet antibody positive OMIM:188030
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Low-frequency hearing loss, Sensorineural hearing impairment, Progressive heari... OMIM:124900
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Mucopolysacchariduria, Macronodular cirrhosis, Abnormal T cell... OMIM:215250
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interleukin level, Decreased proportion of memory B cells, Panhypogammaglobulinemi... ORPHA:79124
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Joint hypermobility, Craniosynostosis, Congenital megaureter, Abnormality of the urinary system, ... ORPHA:369837
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Sensorineural hearing impairment, Galac... OMIM:230350
Lathosterolosis
Osteoporosis, Horseshoe kidney, Elevated hepatic transaminase, Conductive hearing impairment, Int... OMIM:607330
Klippel-Trénaunay Syndrome
Hepatomegaly, Hematuria, Ascites, Microcytic anemia ORPHA:90308
Sézary Syndrome
Pruritus, Erythroderma, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Alopecia, ... ORPHA:3162
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Glycosuria, Elevate... OMIM:227810
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Methylcobalamin Deficiency Type Cble
Osteoporosis, Neutropenia, Glomerulopathy, Pancytopenia, Hemolytic-uremic syndrome, Hearing impai... ORPHA:2169
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Hyp... ORPHA:309854
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy... ORPHA:567548
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Autoimmune Polyendocrinopathy Type 3
Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomatosis, Autoimm... ORPHA:227982
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Joubert Syndrome 33
Apnea OMIM:617767
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Non-Functioning Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Conductive hearing impairm... ORPHA:94080
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Renal insufficiency, Arthrogryposis multiplex congenita, Abnormal ... ORPHA:440713
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Elevated circulating alkalin... OMIM:307800
Sarcoidosis
Bronchiectasis, Bone cyst, Maculopapular exanthema, Weight loss, Hypercalciuria, Decreased liver ... ORPHA:797
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Increased circulating antibody level, Small for gestationa... ORPHA:86816
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Chronic hepatic failure, Hyperuricemia, Hepatomegaly, Jaundice... ORPHA:469
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Imm... OMIM:613496
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperuricemia, Hyperlipidemia ORPHA:364
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Skin rash, Pruritus, Elevated total serum... ORPHA:98848
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Pancytopenia, Hepatomegaly, Failu... OMIM:617872
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Classic Galactosemia
Osteoporosis, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Hypogl... ORPHA:79239
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Failure to thrive, Anemia OMIM:615085
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Renal insufficiency, Hyperammon... ORPHA:27
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Fair hair, Hepatomegaly, Nephrotic syndrom... OMIM:269920
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism, Skin rash, Abnormality of the hepatic vasculature, Nodular regenerati... ORPHA:247691
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pruritus, Weight loss, Chronic myelomonocytic leukemia, Increased susceptibility to fractures, Ab... ORPHA:98849
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Dent Disease
Hematuria, Renal hypophosphatemia, Hypercalciuria, Chronic kidney disease, Thin bony cortex, Dela... ORPHA:1652
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Ectopic ossification in muscle tissue, Ectopic ossification in ligament tis... ORPHA:337
Albers-Schönberg Osteopetrosis
Hypocalcemia, Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Hearing ... ORPHA:53
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Hematuria, Hypercalciuria, Delayed puberty, Joint stiffness, Anemia, Renal ... ORPHA:534
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Decreased urinary urate, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:760
Tick-Borne Encephalitis
Increased circulating IgM level, Myelitis, Elevated hepatic transaminase, Leukocytosis, Abnormali... ORPHA:297
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Cir... OMIM:607665
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Decreased circulating antibody level... OMIM:300972
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Radioulnar synostosis, Amegakaryocytic thrombocytopenia ORPHA:71289
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Microcytic anemia, Hirsutism, Insulin-resistant diabetes mellitus, Delayed... ORPHA:293967
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Congenital Toxoplasmosis
Elevated hepatic transaminase, Failure to thrive in infancy, Thrombocytopenia, Jaundice, Hepatome... ORPHA:858
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Abnormal trabecular bone morphology, Osteopetrosis, Hepatomegaly, Decreased ... OMIM:612301
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Distal 16P11.2 Microdeletion Syndrome
Low anterior hairline, Hyperuricemia, Obesity, Vesicoureteral reflux, Chronic kidney disease, Ren... ORPHA:261222
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ... OMIM:618349
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Skin rash, Craniosynostosis, Increased circulating IgE level, Eczematoid der... OMIM:147060
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia, Increased circulating IgG level, Ascites, Ab... ORPHA:284227
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimuation test, Decreased body weight, Hypo... OMIM:618347
Hypophosphatasia, Childhood
Elevated urine pyrophosphate, Craniosynostosis, Elevated plasma pyrophosphate, Low alkaline phosp... OMIM:241510
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Hyperphosphaturia, Hepatic steatosis,... OMIM:229600
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Mild proteinuria, Hypothyroidism, Increased serum pyruvate, Hyposp... OMIM:619147
Wilson Disease
Acute hepatitis, Pruritus, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hep... ORPHA:905
Refractory Anemia With Excess Blasts
Anemic pallor, Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute ... ORPHA:86839
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Hyperuricemia, Jaundice, Renal insufficiency, Joint hyperflexibility, Renal ... ORPHA:93111
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Hepatic fai... ORPHA:108
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Ren... ORPHA:289916
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia,... ORPHA:42
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Graft Versus Host Disease
Scaling skin, Stiff interphalangeal joints, Pneumonia, Limited shoulder movement, Maculopapular e... ORPHA:39812
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Maternal Uniparental Disomy Of Chromosome 1
Uplifted earlobe, Epiphyseal stippling, Panhypogammaglobulinemia, Pancytopenia, Hepatomegaly, Hea... ORPHA:251009
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Lysinuric Protein Intolerance
Osteoporosis, Hemophagocytosis, Increased circulating ferritin concentration, Intraalveolar phosp... OMIM:222700
Osteochondrosis Of The Metatarsal Bone
Chondritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness, Arthritis ORPHA:564003
Oculocerebrodental Syndrome
Hypocalcemia, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment... ORPHA:557003
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin... ORPHA:48818
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ... OMIM:134600
Transaldolase Deficiency
Cirrhosis, Abnormality of the kidney, Premature skin wrinkling, Thrombocytopenia, Abnormal circul... ORPHA:101028
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cinca Syndrome