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Gene: Cul9 MGI:1925559

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Gene Summary

Name:
cullin 9
Synonyms:
1810035I07Rik,  Parc

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating potassium level Cul9em1(IMPC)Ccpcz HOM Early adult 2.02×10-07
increased circulating lactate dehydrogenase level Cul9em1(IMPC)Ccpcz HOM Early adult 8.57×10-06
vertebral transformation Cul9em1(IMPC)Ccpcz HOM   Early adult 7.94×10-06
increased blood urea nitrogen level Cul9em1(IMPC)Ccpcz HOM Early adult 6.80×10-05
abnormal vertebrae morphology Cul9em1(IMPC)Ccpcz HOM Early adult 2.17×10-05
abnormal vertebral arch morphology Cul9em1(IMPC)Ccpcz HOM   Early adult 1.50×10-06
abnormal kidney morphology Cul9em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Cul9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Cul9em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating creatine kinase level Cul9em1(IMPC)Ccpcz HOM Early adult 3.18×10-14
enlarged thymus Cul9em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Cul9em1(IMPC)Ccpcz HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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Human diseases caused by Cul9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cul9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Hereditary Breast And Ovarian Cancer Syndrome
Breast carcinoma, Abnormal fallopian tube morphology, Prostate cancer, Neoplasm of the pancreas, ... ORPHA:145
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Breast carcinoma, Colorectal polyposis, Bladder carcinoma, Prostate ca... ORPHA:157798
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Enchondromatosis, Multiple, Ollier Type
Multiple enchondromatosis, Hemangioma, Chondrosarcoma OMIM:166000
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Thyroid Cancer, Nonmedullary, 4
Prostate cancer, Basal cell carcinoma, Papillary thyroid carcinoma, Goiter, Ovarian neoplasm OMIM:616534
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Maffucci Syndrome
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... ORPHA:163634
Subependymoma
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... ORPHA:251639
Ependymoma
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... ORPHA:251636
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Desmoid Disease, Hereditary
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors OMIM:135290
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Neoplasm of the central nervous system, Weight loss, Sarcoma, Neoplasm of the p... ORPHA:83469
Multiple Enchondromatosis, Maffucci Type
Multiple enchondromatosis, Hemangioma, Chondrosarcoma OMIM:614569
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Rhabdomyosarcoma, Embryonal, 2
Nephroblastoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Ovaria... OMIM:180295
Lynch Syndrome 5
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... OMIM:614350
Familial Multinodular Goiter
Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol... ORPHA:276399
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Muir-Torre Syndrome
Breast carcinoma, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genitourinary tract tumor,... OMIM:158320
Acquired Hypertrichosis Lanuginosa
Weight loss, Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm ORPHA:2221
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Gonadoblastoma
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... ORPHA:206484
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Tumor Predisposition Syndrome 1
Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu... OMIM:614327
Ollier Disease
Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Neoplasm, ... ORPHA:296
Familial Melanoma
Neoplasm of the stomach, Neoplasm of the pancreas, Melanoma, Neoplasm of the breast ORPHA:618
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Hamartoma, Visceral angiomatosis, Neoplasm of the thyroid gland, Neoplasm of the breast, Lymphang... ORPHA:137608
Lynch Syndrome 4
Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... OMIM:615723
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Familial Colorectal Cancer Type X
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Stomach cancer, Urinary... ORPHA:440437
Familial Adenomatous Polyposis 3
Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell... OMIM:616415
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... ORPHA:454840
Mast Cell Sarcoma
Weight loss, Sarcoma, Hepatomegaly ORPHA:66661
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Papillary... OMIM:145001
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Hepatic steatosis, ... OMIM:617872
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Lynch Syndrome
Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Urinary tract neoplasm,... ORPHA:144
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... OMIM:619975
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Werner Syndrome
Breast carcinoma, Ovarian neoplasm, Abnormal testis morphology, Hypogonadism, Thyroid carcinoma, ... ORPHA:902
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Neoplasm of the pancreas, Spinal cord tumor, Jaundice, Neoplasm ... ORPHA:370348
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... ORPHA:2591
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Fanconi Anemia, Complementation Group S
Breast carcinoma, Ovarian neoplasm, Failure to thrive, Ovarian carcinoma OMIM:617883
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Large Congenital Melanocytic Nevus
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma ORPHA:626
46,Xy Sex Reversal 6
Gonadoblastoma, Sex reversal, Hypospadias, Chordee, Gonadal dysgenesis, Clitoral hypertrophy, Dys... OMIM:613762
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Breast carcinoma, Extrahepatic cholestasis, Weight loss, Neoplasm of t... ORPHA:1333
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... ORPHA:79665
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Rhabdoid Tumor
Neoplasm of the central nervous system, Weight loss, Sarcoma, Neoplasm of the liver, Renal neoplasm ORPHA:69077
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Cholelithiasis, Zolling... ORPHA:438274
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma, Unilateral vestibular schwannoma OMIM:603641
Ovarian Fibrothecoma
Fibrosarcoma, Gonadal calcification, Diffuse leiomyomatosis, Abnormality of the ovary, Abnormal e... ORPHA:314478
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Hem... OMIM:614817
Cowden Syndrome 1
Breast carcinoma, Fibroadenoma of the breast, Hydrocele testis, Meningioma, Carcinoma, Transition... OMIM:158350
Frasier Syndrome
Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma OMIM:136680
Lhermitte-Duclos Disease
Trichilemmoma, Neoplasm of the thyroid gland, Fibroadenoma of the breast, Ovarian neoplasm ORPHA:65285
Lung Cancer
Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma OMIM:211980
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytopenia, Increased blood urea nitroge... OMIM:613845
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Abnormality of the ovary, Basal cell c... ORPHA:314473
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612926
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612924
Msh3-Related Attenuated Familial Adenomatous Polyposis
Papilloma, Stomach cancer, Astrocytoma, Colorectal polyposis, Multiple gastric polyps, Neoplasm o... ORPHA:480536
Hereditary Renal Hypouricemia
Back pain, Acute kidney injury, Hematuria, Abnormal renal physiology, Hypercalciuria, Increased b... ORPHA:94088
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hyperbilirubinemia, Cholestasis, Hepatomegaly, Increased serum bile acid concentration,... OMIM:620010
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Pap... ORPHA:523
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Drug-Induced Lupus Erythematosus
Anemia, Hematuria, Elevated circulating creatine kinase concentration, Increased blood urea nitro... ORPHA:231111
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... ORPHA:79501
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses OMIM:133700
Carney Complex
Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Cutaneous myxoma, Hepatocellul... ORPHA:1359
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Abnormal form of the vertebral bodies ORPHA:1802
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm ORPHA:231632
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Increased serum iron, Elevated transferrin saturation, Incre... OMIM:613313
Familial Adenomatous Polyposis
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... ORPHA:733
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... OMIM:618963
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... OMIM:271500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Cutaneous Neuroendocrine Carcinoma
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... ORPHA:79140
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Familial Adenomatous Polyposis 1
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... OMIM:175100
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Breast carcinoma, Neoplasm of the nose, Stomach cancer, Neoplasm of th... ORPHA:2869
Legius Syndrome
Nephroblastoma, Multiple lipomas, Ovarian neoplasm, Neoplasm of the central nervous system, Neuro... ORPHA:137605
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Sandhoff Disease
Kyphosis, Splenomegaly, Hepatomegaly ORPHA:796
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... ORPHA:220460
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:614480
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Sarcom... ORPHA:44890
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Decreased circulating ceruloplasmin concentration, Hepatosplenom... OMIM:616828
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Infantile Liver Failure Syndrome 3
Jaundice, Hepatic bridging fibrosis, Hepatic steatosis, Hypoplastic vertebral bodies, Hyperammone... OMIM:618641
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Goiter, Abnormal testis morphology, Sarcoma, Neoplasm of the thyroid gland, P... ORPHA:457059
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Jaundice, Microangiopathic hemolytic anem... OMIM:274150
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myo... ORPHA:57
Yellow Nail Syndrome
Sarcoma, Biliary tract neoplasm, Renal neoplasm, Neoplasm, Neoplasm of the lung ORPHA:662
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Increased circulating gonadotropin level, Abnormal vagina mo... ORPHA:251510
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... OMIM:619658
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... OMIM:602088
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Polymerase Proofreading-Related Adenomatous Polyposis
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... ORPHA:447877
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Retinal capillary hemangioma, P... OMIM:193300
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Retinoblastoma
Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia OMIM:180200
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly ORPHA:100025
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosar... OMIM:150800
Cowden-Like syndrome
Breast carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Endometrial carcinoma OMIM:612359
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:172
Mirage Syndrome
Leukopenia, Anemia, Microphallus, Decreased testicular size, Hyperkalemia, Lymphopenia, Hypospadi... OMIM:617053
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:203400
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:610600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Harderoporphyria
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Neonatal hy... OMIM:618892
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... OMIM:235400
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubinemia, Portal fib... OMIM:616278
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Acute kidney injury, Normocytic anemia, Dysuria, Renal tubula... ORPHA:49041
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Hurler-Scheie Syndrome
Spinal canal stenosis, Abnormal vertebral morphology, Abnormality of the tonsils, Hepatomegaly, S... ORPHA:93476
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Medulloblastoma, Odontogenic keratocysts of the jaw, Cardiac rhabdo... OMIM:109400
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Cholelithiasis, Recurrent tonsillitis ORPHA:171876
Desmoid Tumor
Fibroma, Desmoid tumors, Neoplasm of the skin, Intestinal polyposis ORPHA:873
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hepatomegaly OMIM:261750
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Splenomegaly ORPHA:664
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Opsoclonus-Myoclonus Syndrome
Breast carcinoma, Melanoma, Small cell lung carcinoma, Neoplasm, Ovarian teratoma, Neuroblastoma,... ORPHA:1183
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Glioma Susceptibility 3
Medulloblastoma, Astrocytoma, Glioblastoma multiforme OMIM:613029
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly OMIM:306000
Muir-Torre Syndrome
Breast carcinoma, Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Malignant gen... ORPHA:587
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Hyperlipidemia, Splenomega... OMIM:214900
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Increased b... ORPHA:251004
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Hyperkalemia, Camptocormia, Renal h... OMIM:617595
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... OMIM:612526
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Isothenuria, Reticulocytosis, Hepatosplenomegaly, Decreased mean c... OMIM:611590
Spondylometaphyseal Dysplasia, Axial
Scoliosis, Splenomegaly, Platyspondyly OMIM:602271
Neuroendocrine Neoplasm Of Appendix
Ileal adenocarcinoma, Adrenocorticotropic hormone excess, Adenocarcinoma of the colon, Elevated h... ORPHA:100079
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Anemia, Hyponatremia, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, ... ORPHA:97362
Denys-Drash Syndrome
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Nephroblastoma, Ambiguous... OMIM:194080
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Increased circulating ferritin concentration, Hepatomegaly, Increased se... OMIM:602390
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria OMIM:602079
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... OMIM:300635
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Generalized lymphaden... OMIM:615559
Uremic Pruritus
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... ORPHA:94059
Late-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556037
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Reduced circulating prolactin concentration OMIM:223360
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the nervous system, Prostate cancer, Genital neoplasm, Weight loss, Neoplasm of the l... ORPHA:2126
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... ORPHA:99845
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Early-Onset Familial Hypoaldosteronism
Renal sodium wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:556030
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:177735
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Renal salt wasting, Cryptorchidism OMIM:614736
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... OMIM:601198
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Scoliosis, Elevat... OMIM:223900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Mastocytosis
Sarcoma, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Hyperkalemic Periodic Paralysis
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:682
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated ... OMIM:608885
Crouzon Syndrome
Dysgerminoma OMIM:123500
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Apert Syndrome
Ovarian neoplasm ORPHA:87
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Renal salt wasting, Hyponatremia OMIM:264350
Multiple Endocrine Neoplasia, Type Iv
Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcino... OMIM:610755
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice, Hyperkalemia, Hyponatremia ORPHA:199296
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Peutz-Jeghers Syndrome
Breast carcinoma, Ovarian cyst, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple ga... OMIM:175200
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Cockayne Syndrome Type 1
Anemia, Increased blood urea nitrogen, Scoliosis, Hepatomegaly, Cryptorchidism, Proteinuria, Rena... ORPHA:90321
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... OMIM:266200
Grfoma
Intermittent jaundice, Increased circulating prolactin concentration, Neoplasm of the thymus, Ext... ORPHA:97261
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hyperchloremia, Hyperkalemia OMIM:614492
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... ORPHA:158057
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Mismatch Repair Cancer Syndrome 1
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... OMIM:276300
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Cancer-Associated Retinopathy
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... ORPHA:71505
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Retinoblastoma
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... ORPHA:790
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Renal insufficiency, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutro... ORPHA:79312
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... OMIM:179800
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... ORPHA:247798
Tuberous Sclerosis 2
Astrocytoma, Chordoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Adenoma sebaceum, Retinal hamar... OMIM:613254
Dopamine Beta-Hydroxylase Deficiency
Anemia, Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Elevated circulating ... ORPHA:230
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Hepatomegaly, Sclerotic vertebral endplates, Thrombocytopenia, Splenomegaly OMIM:611490
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Jaundice, Polycystic kidney dysplasia, Hypokalemia, Elevated circ... OMIM:613095
Ppoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97278
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Glycogen Storage Disease Xii
Reduced haptoglobin level, Anemia, Normocytic anemia, Jaundice, Hemoglobinuria, Hyperbilirubinemi... OMIM:611881
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly ORPHA:79292
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Normocytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholecystitis, No... OMIM:235700
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:105200
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Apolipoprotein C-Ii Deficiency
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... OMIM:207750
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Hepatitis, Normocytic anemia, Pituitary adenoma, Hyperkalemia, Hypoparathyroidism,... ORPHA:199299
Neuroleptic Malignant Syndrome
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Hypernatremia, Hypoc... ORPHA:94093
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Monosomy 9Q22.3
Nephroblastoma, Medulloblastoma, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Large ... ORPHA:77301
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Atypical Werner Syndrome
Decreased body weight, Neoplasm of the lung, Abnormal testis morphology, Hypogonadism, Neoplasm o... ORPHA:79474
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... OMIM:616050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly... OMIM:300908
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopeni... ORPHA:848
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Narrow vertebral interpedicular distance, Central vertebral hypoplasia, Sho... OMIM:602557
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... OMIM:613011
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased testicular size, Hyperkalemia, Renal salt wasting, ... ORPHA:90791
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Hepatomegaly, Sp... OMIM:185000
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Increased total bilir... ORPHA:3202
Proteus Syndrome
Macroorchidism, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm of the l... ORPHA:744
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circulating creatinin... OMIM:154230
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Proximal tubulopathy, Abnormal magnesium concentration, Hypokal... OMIM:241150
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... OMIM:618398
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuria, Thromboc... ORPHA:447
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:613673
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Pituitary null cell adenoma, Pituitary... ORPHA:276152
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... OMIM:182900
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Astrocytoma, Ovarian cyst, Uterine leiomyoma, Adenoma... OMIM:617100
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Alpha-Thalassemia
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Cowden Syndrome
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... ORPHA:201
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Renal salt wasting, Proximal renal tubular acido... ORPHA:427
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Multiple Myeloma
Hyperproteinemia, Anemia, Nephrotic syndrome, Acute kidney injury, Lymphadenopathy, Nephropathy, ... ORPHA:29073
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteosarcoma, Histiocytoma, Fibrosarcoma OMIM:112250
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... ORPHA:79477
Oculoskeletodental Syndrome
Thoracic kyphosis, Mucopolysacchariduria, Scoliosis, Hepatomegaly, Cryptorchidism, Hypercalcemia,... OMIM:618440
Medulloblastoma
Medulloblastoma OMIM:155255
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Lysosomal Acid Lipase Deficiency
Abnormal urine potassium concentration, Hypercholesterolemia, Hepatic fibrosis, Microvesicular he... ORPHA:275761
Somatostatinoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97283
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Vipoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97282
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Fibroma, Tracheobronchial leiomyomatosis, Weight loss, Diffuse leiomyomatosis, Vulvar neoplasm, E... ORPHA:1018
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Hyperparathyroidism-Jaw Tumor Syndrome
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Parathyroid adenoma, Thyroid carcinoma, Renal... ORPHA:99880
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... ORPHA:158061
Nephronophthisis 19
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Tangier Disease
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... OMIM:205400
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabsorption of b... OMIM:604278
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated hepatic transaminase, Secondary h... ORPHA:273
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Neurofibromatosis Type 1
Spinal neurofibromas, Multiple lipomas, Precocious puberty, Astrocytoma, Neoplasm of the gastroin... ORPHA:636
Monosomy 22
Sarcoma, Gonadal neoplasm, Schwannoma, Meningioma, Hepatosplenomegaly, Aplasia of the thymus, Mic... ORPHA:96123
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Parathyroid Carcinoma
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal hamartoma, Abnormali... ORPHA:143
Acute Adrenal Insufficiency
Hyperuricemia, Normocytic anemia, Hyperkalemia, Renal salt wasting, Increased circulating renin l... ORPHA:95409
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Scrotal hypospadias, Microphallus, Hyperkalemia, Adrenal hyperplasia, Hypospadias, Penoscrotal hy... OMIM:201810
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Turcot Syndrome With Polyposis
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... ORPHA:99818
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Ependymoma, Neoplasm of... ORPHA:652
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Scoliosis, Hepatomegaly, Splenomegaly, Heparan sulfate excretion i... OMIM:252900
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur... OMIM:300971
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Abnormality of the cervical spine, Enlarged kidney, Abnormal spleen mor... ORPHA:464329
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretio... OMIM:252920
Hemochromatosis, Type 1
Cirrhosis, Increased serum iron, Hepatocellular carcinoma, Testicular atrophy, Increased circulat... OMIM:235200
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Addison Disease
Thymoma, Hyperuricemia, Primary testicular failure, Normocytic anemia, Hyperkalemia, Renal salt w... ORPHA:85138
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Elevated circulating creatine kin... OMIM:615895
Liddle Syndrome
Hypokalemia, Nephropathy, Renal insufficiency ORPHA:526
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Abnormality of iron ho... ORPHA:231222
Follicular Lymphoma
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy ORPHA:545
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Anemia, Anuria, Back pain, Hyperphosphatemia, Acute tubulointerstit... ORPHA:340
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Osteopetrosis, Autosomal Recessive 1
Anemia, Hypocalcemia, Pancytopenia, Sandwich appearance of vertebral bodies, Hepatomegaly, Thromb... OMIM:259700
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hepatosplenomegaly OMIM:619750
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia, Polyuria, Hypercalciuria OMIM:613677
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Hyperbilirubinemia, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly OMIM:235555
Von Hippel-Lindau Disease
Pancreatic cysts, Pancreatic endocrine tumor, Renal cell carcinoma, Neoplasm of the pancreas, Ret... ORPHA:892
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Kyphosis, Hypokalemia, Pituitary adenoma, Vertebral compression fract... OMIM:219090
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... OMIM:603553
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, Short neck, Hy... OMIM:235255
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Kyphoscoliosis, Hepatomegaly, Beaking of vertebral bodies, Splenom... OMIM:252930
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Jaundice, Hyperkalemia, Adrenal hyperplasia, Hyponatremia ORPHA:90790
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... ORPHA:381
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, B... ORPHA:829
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Hypertrigly... OMIM:613027
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... OMIM:300539
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Acholic stools, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly... OMIM:607765
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium... OMIM:618314
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Kyphosis, Hypersplenism, Hematuria, Vertebral compression fracture... ORPHA:77259
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Testicular adrenal rest tumor, Hyperkalemia, Hypernatriuria, Renal salt wa... ORPHA:361
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... OMIM:224120
Gaucher Disease, Type I
Anemia, Hypersplenism, Vertebral compression fracture, Pancytopenia, Hepatomegaly, Thrombocytopen... OMIM:230800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Thoracolumbar scoliosis, Elevated circ... OMIM:610199
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Adrenocorticotropic hormone exc... ORPHA:168558
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Anemia, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Polyuria, Hypercalcemia, ... OMIM:239200
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Short neck, Hypoprot... ORPHA:1655
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Urogenital sinus anomaly, Adrenocorticotropic hormone exc... ORPHA:289548
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Low back pain, Pancytopenia... ORPHA:86843
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, My... ORPHA:423
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Hypoplastic vertebral bodies, Scoliosis, Hepatomegaly, Platyspondyly, Bea... OMIM:230600
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hypokalemia, Goiter OMIM:613239
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Hepatitis, Short neck, Mucopolysacchariduria, Scoliosis, An... ORPHA:584
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis OMIM:602722
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Fibrosarcoma ORPHA:33001
Liddle Syndrome 3
Hypokalemia OMIM:618126
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Fused cervical vertebrae, Neutrophilia, Elevated circulating C-reactive protein concentration, He... OMIM:612852
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Neoplasm of the pancreas, Neoplasm ORPHA:2959
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia, Decreased urinary potassium OMIM:611489
Gm1-Gangliosidosis, Type I
Kyphosis, Hypoplastic vertebral bodies, Short neck, Scoliosis, Hepatomegaly, Beaking of vertebral... OMIM:230500
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hepatosplenomegaly, Lactescent serum, Hyperlipidemia, Hypercholesterolemi... OMIM:238600
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Goiter OMIM:188580
Fucosidosis
Anterior beaking of lumbar vertebrae, Cardiomegaly, Cervical platyspondyly, Glycopeptiduria, Ante... OMIM:230000
Hereditary Elliptocytosis
Stomatocytosis, Splenomegaly, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaun... ORPHA:288
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... OMIM:615947
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Jaundice, ... OMIM:251880
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Pol... ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Hepatitis, Jaundice, Hyperbilirubinemia, Acholic stools, Hepatic bridging fibrosis, In... OMIM:613812
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Elevate... OMIM:210250
Mucopolysaccharidosis Type 6
Kyphosis, Short neck, Ovoid vertebral bodies, Mucopolysacchariduria, Splenomegaly ORPHA:583
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Glucagonoma
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P... ORPHA:97280
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal tubular dysfun... OMIM:134600
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Hyperkal... ORPHA:293978
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Calcinosis, Hypokalemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Ne... OMIM:617913
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Left ventricular hypertroph... ORPHA:320
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Renal insufficiency OMIM:177200
Wilson Disease
Cirrhosis, Anemia, Back pain, Hepatitis, Jaundice, Hepatic steatosis, Acute hepatitis, Hepatomega... ORPHA:905
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Transient hypophosphatemia, Hyperkalemia, Mildly elevate... ORPHA:79102
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Jaundice, Abnormal renal physiology, Lymphadenopathy, Increased cir... ORPHA:540
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Meige Disease
Angiosarcoma ORPHA:90186
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Kyphosis, Dermatan sulfate excretion in urine, Hypoplasia o... OMIM:253220
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia OMIM:154020
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... OMIM:603909
Cystinosis
Aminoaciduria, Renal insufficiency, Hypophosphatemia, Hypokalemia, Nephropathy, Proteinuria, Port... ORPHA:213
East Syndrome
Renal sodium wasting, Hypokalemia, Renal salt wasting, Abnormal urinary electrolyte concentration... ORPHA:199343
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia ORPHA:231580
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Renal tubular acidosis, ... ORPHA:370
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis OMIM:618042
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Oliguria, Leukocyt... ORPHA:31824
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st... OMIM:617394
Mcleod Syndrome
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hepatomegaly, Sple... OMIM:300842
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Transaldolase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Pancytopenia, Hepatosplenomegaly, Short neck, Micronodular c... OMIM:606003
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega... OMIM:619463
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Familial Hyperaldosteronism Type Iii
Hypokalemia, Adrenal hyperplasia, Left ventricular hypertrophy, Hypercalciuria ORPHA:251274
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ambiguous genitalia, External genital hypoplasia, Decreased testicular size, Carcinoma, Hypospadi... OMIM:610644
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly ORPHA:158029
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Nmda Receptor Encephalitis
Neoplasm of the thymus, Neuroblastoma, Ovarian teratoma, Hodgkin lymphoma, Testicular teratoma, N... ORPHA:217253
Fanconi-Bickel Syndrome
Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria, Renal tu... OMIM:227810
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Anuria, Hemolytic anemia, Acute kidney injury, Decreased urine outpu... ORPHA:544482
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Lipodystrophy, Congenital Generalized, Type 4
Hyperlordosis, Spinal rigidity, Elevated circulating creatine kinase concentration, Hepatic steat... OMIM:613327
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... ORPHA:231226
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Hurler-Scheie Syndrome
Kyphosis, Dermatan sulfate excretion in urine, Scoliosis, Hepatomegaly, Splenomegaly, Heparan sul... OMIM:607015
Legionnaires Disease
Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Lymphadenopathy, Bone marrow hypocellu... ORPHA:549
Glycogen Storage Disease Ib
Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Focal segmental glomerulo... OMIM:232220
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... ORPHA:822
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Ethylene Glycol Poisoning
Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Hypocalcemia, Hyperkalemia,... ORPHA:31826
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Peritonitis, Unco... ORPHA:90038
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly ORPHA:2969
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Hypertriglycer... ORPHA:264580
Familial Hyperaldosteronism Type I