Gene Summary

Name:
importin 7
Synonyms:
A330055O14Rik,  Imp7,  RanBP7

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Ipo7em1(IMPC)Mbp HOM   E9.5 0.00
increased exploration in new environment Ipo7em1(IMPC)Mbp HET Middle aged adult 4.38×10-05
abnormal urinary bladder morphology Ipo7em1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology Ipo7em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Ipo7em1(IMPC)Mbp HET Late adult 0.00
anophthalmia Ipo7em1(IMPC)Mbp HET Early adult 0.00
increased circulating insulin level Ipo7em1(IMPC)Mbp HET Early adult 6.52×10-05
abnormal trachea morphology Ipo7em1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Ipo7em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Ipo7em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Ipo7em1(IMPC)Mbp HET Early adult 0.00
increased circulating phosphate level Ipo7em1(IMPC)Mbp HET Early adult 2.74×10-05
abnormal eye morphology Ipo7em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Ipo7em1(IMPC)Mbp HOM   Early adult 0.00
abnormal skin morphology Ipo7em1(IMPC)Mbp HET Late adult 0.00
abnormal eye morphology Ipo7em1(IMPC)Mbp HET Late adult 0.00
increased circulating triglyceride level Ipo7em1(IMPC)Mbp HET Early adult 5.34×10-07

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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

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Gross Morphology Embryo E9.5

Images

5 Images

Human diseases caused by Ipo7 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 Ipo7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... OMIM:618883
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:203330
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... ORPHA:79299
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia OMIM:232700
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... OMIM:603233
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Hypoparathyroidism, Familial Isolated, 1
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hypocalcemic seizures, Hyper... OMIM:146200
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Impaired glucose tolerance, Hypertriglyceridemia, Glucos... OMIM:610947
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Recurrent hypoglycemia, Hyperphosphatemia, Decreased circulat... ORPHA:94086
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Parathyroid agenesis, Congenital hypoparathyroidism, Hy... ORPHA:2239
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:136120
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hy... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemic seizures, ... ORPHA:94090
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Increased circulating renin level, Hyperphosphat... OMIM:601198
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Increased serum leptin OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... OMIM:620211
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hy... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Pseudopseudohypoparathyroidism
Elevated circulating parathyroid hormone level, Abnormality of the endocrine system, Hyperphospha... ORPHA:79445
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... ORPHA:324575
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154275
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Kerion Celsi
Lymphadenopathy ORPHA:499
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperlipidemia, Hyperinsulinemia ORPHA:329249
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154276
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... OMIM:147630
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... ORPHA:411593
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:612462
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resis... ORPHA:280356
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hyperphosphatemia, Hyper... OMIM:617994
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Excessive insulin response to glucagon test, Increased C-peptide level, Hyp... ORPHA:276575
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:145600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... ORPHA:276580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Decrea... OMIM:241410
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Diabetes mellitus, Elevated circulating creatine kinase concentration OMIM:610717
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Nephropathy, Hepatomegaly, Lymphadenopath... ORPHA:100024
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia, Insulin resistance, Hypercholesterolemia OMIM:612526
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperuricemia, Hyperinsulinemia, Hypertriglyceridemia, Decreased HDL cholester... OMIM:604367
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyceridemia, ... ORPHA:66628
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... OMIM:103580
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia OMIM:619073
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Autoimmune hypoparathyroidism, Hypocalcem... ORPHA:36913
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, Insulin resistance, Decreased adipo... ORPHA:79085
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Calciphylaxis
Secondary hyperparathyroidism, Hyperphosphatemia ORPHA:280062
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyceridemia, ... ORPHA:179494
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Hypoglycemia OMIM:306000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,... ORPHA:276608
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia, Decreased serum leptin, Diabetic ketoacidosis, D... OMIM:615238
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Lymphocytosis OMIM:606445
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria ORPHA:882
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Kimura Disease
Follicular hyperplasia, Lymphadenopathy, Eosinophilia ORPHA:482
Trimethylaminuria
Trimethylaminuria, Neutropenia, Splenomegaly, Anemia OMIM:602079
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Hyperinsulinism Due To Ucp2 Deficiency
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Increased C-peptide level, R... ORPHA:276556
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance OMIM:613877
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hyperphosphatemia, Congenital hypoparathyroidism, Hypocalcemia, Aplasia/Hypop... ORPHA:2323
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Granulomatous Slack Skin
Abnormal lymph node morphology, Acute kidney injury, Nephrocalcinosis ORPHA:33111
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Microphthalmia, Hypocalcemia OMIM:127000
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Neoplasm of the thyroid gland, Goiter, Hyperphosphatemia, Hyperthyroidism, Abnormal calcium-phosp... ORPHA:457059
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites ORPHA:100025
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Pseudohy... ORPHA:94089
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Microphthalmia, Isolated 8
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:615113
Burkitt Lymphoma
Abnormality of the liver, Abnormal lymph node morphology, Abnormality of the spleen, Abnormality ... ORPHA:543
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:417
Galactosemia Iii
Jaundice, Galactosuria, Hepatomegaly, Aminoaciduria, Splenomegaly OMIM:230350
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71526
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Generalized lymphadenopathy, Decreased proportion of memory B cells, Decrease... OMIM:615559
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Adrenal calcification, Hypercholesterolemia ORPHA:75234
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Aminoaciduria ORPHA:79238
Anencephaly 2
Anophthalmia OMIM:619452
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Increased B cell count OMIM:618982
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Autoimmune thrombocytopenia, Leukemia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper... OMIM:300853
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:613101
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Lymphadenopathy, Histiocytosis ORPHA:157991
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Abnormality of mesentery morphology, Abnormality of... ORPHA:93941
Immunodeficiency 32A
Lymphadenopathy, Lymphadenitis OMIM:614893
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia, Decreas... ORPHA:435660
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Hypocalcemic seizures, Hyperphosphatemia, Abnormal circulating follicle... ORPHA:93325
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Abnor... ORPHA:263455
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto... OMIM:619375
Insulinoma
Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo... ORPHA:97279
Mandibuloacral Dysplasia
Abnormally large globe, Hyperinsulinemia, Hypertriglyceridemia, Increased circulating free fatty ... ORPHA:2457
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, Decreased adiponectin level, Insuli... ORPHA:435651
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Hy... ORPHA:99879
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Pseudohy... ORPHA:79444
Mody
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Glycosuria, Diabetic ketoacido... ORPHA:552
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Amyloidosis, Familial Visceral
Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly OMIM:105200
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly OMIM:620010
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis OMIM:211900
Bdv Syndrome
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... OMIM:619326
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Acrodysostosis 1 With Or Without Hormone Resistance
Hypogonadism, Elevated calcitonin, Elevated circulating parathyroid hormone level, Hyperphosphate... OMIM:101800
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia ORPHA:363400
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:56425
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Parathyroi... OMIM:612089
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Splenomegaly, Eosinophili... OMIM:602450
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hyperinsulinemia, Hypergonadotropic h... ORPHA:79237
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated calcitonin, Elevated circulating parathyroid ho... ORPHA:79443
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomeg... OMIM:616217
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... ORPHA:98848
Schnitzler Syndrome
Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:37748
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Abnormal circulating lipid concentration, Increased serum testosterone leve... ORPHA:2298
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... ORPHA:293964
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node germinal center OMIM:608184
Neuroleptic Malignant Syndrome
Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi... ORPHA:94093
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Increased C-peptide level, Hyperinsulinemia, Hy... ORPHA:528
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, Hypopho... ORPHA:157215
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, Abn... OMIM:150550
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperglycemia, Type II diabetes me... OMIM:615812
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Bangstad Syndrome
Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... ORPHA:1227
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, Ascites ORPHA:858
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:2584
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly OMIM:610539
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Hemophagocytosis, Aplastic anemia, Hepatomegaly, Lymphadenopathy, Pancytopeni... OMIM:615122
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:615558
Fanconi Renotubular Syndrome 5
Glycosuria, Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Heme Oxygenase 1 Deficiency
Proteinuria, Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy,... OMIM:614034
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... OMIM:615387
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s... OMIM:615363
Congenital Respiratory-Biliary Fistula
Tracheal stenosis, Abnormality of the liver ORPHA:2040
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Precocious puberty, Maturity-onset diabetes of the young OMIM:616222
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:79301
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... ORPHA:99886
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hypogonadism, Elevated calcitonin, Diabetes mellitus, Elevated circulating parathyroid hormone le... ORPHA:280651
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Hypophosphatemia, Glycosuria, Diabetes mellitus... ORPHA:2088
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypopituitarism, Hypothyroidism, Hypoalbuminemia OMIM:619013
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Abnormality of the ureter, Hypoplasia of penis, Ascites, Splenomegaly, Hypospadias ORPHA:1046
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Aplasia/Hypoplasia of the fovea ORPHA:2611
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Lymphadenopathy, Ascites ORPHA:26790
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Fasting hypoglycemia, Hypoglycemia OMIM:613027
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:423
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly OMIM:619658
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly ORPHA:172
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Fastin... ORPHA:71212
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Hemochromatosis, Type 2B
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613313
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocy... ORPHA:277
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Diabetes mellitus, Male hypogonadism, Insulin resistance OMIM:615381
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lymph node morphology, Abnormality of the pancreas, Neutrophilia,... ORPHA:54251
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hypoglycemia OMIM:616026
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Harderoporphyria
Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ... OMIM:618892
Nephrotic Syndrome, Type 14
Hypogonadism, Hypertriglyceridemia, Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypoalbu... OMIM:617575
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Erythrocytosis, Familial, 8
Increased hemoglobin, Increased hematocrit, Splenomegaly, Polycythemia OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Portal fibrosis, Splenomegaly, Acholic stools OMIM:619868
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:214900
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Tangier Disease
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... OMIM:205400
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Aplastic anemia, Fulminant hepatitis, Hepatomegaly, Thrombocytopenia, Lymphaden... OMIM:308240
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Cystinosis
Delayed puberty, Hypophosphatemia, Nephrogenic diabetes insipidus, Hypokalemia, Hypothyroidism, T... ORPHA:213
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenitis, Neph... ORPHA:911
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Abnormal erythrocyte morph... ORPHA:766
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... ORPHA:2585
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Hyperuricemia, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, In... ORPHA:79083
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stimulation test, Mi... OMIM:147250
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Lymphadeni... OMIM:618935
Alstrom Syndrome
Hyperuricemia, Multinodular goiter, Diabetes insipidus, Decreased response to growth hormone stim... OMIM:203800
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia, Abnormality of the hypothalamus-pituitary axis ORPHA:139471
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... OMIM:267700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia, Hypoglycemia ORPHA:364
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulating follicle stimulat... OMIM:617253
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline OMIM:603471
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Estrogen Resistance Syndrome
Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Absence of secondary se... ORPHA:785
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... OMIM:616278
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Hypercholesterolemia OMIM:182290
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Klatskin Tumor
Jaundice, Hepatomegaly, Cholangiocarcinoma, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy OMIM:607115
Griscelli Syndrome
Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... ORPHA:381
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Decreased HDL c... ORPHA:412
Fanconi Renotubular Syndrome 2
Elevated circulating parathyroid hormone level, Hypophosphatemia, Glycosuria OMIM:613388
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Hemolytic-uremic syndrome, Renal insufficiency, Hepatomegal... OMIM:619644
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Abnormal lymphocy... ORPHA:100026
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Cirrhosis OMIM:613490
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Thrombocytopenia, Lymphadenopathy, Hematuria ORPHA:69077
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Anemia, Neoplasm of the pancreas, Hepatomegaly, Lymphadenopathy, M... ORPHA:83469
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hyperinsulinemia, Hypertriglyceridemia, Insulin resista... ORPHA:79086
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly OMIM:619183
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Decreased circulating parathyroid hormone level, Hypo... OMIM:241530
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia, Glycosuria OMIM:134600
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Tularemia
Leukocytosis, Cervical lymphadenopathy, Anemia, Abnormal nasopharyngeal adenoid morphology, Throm... ORPHA:3392
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Laryngotracheal stenosis, Lymphadenopathy ORPHA:142
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperglycemia, Hyperlipidemia, Glucose intolerance, Insulin-resistant diabetes ... OMIM:608612
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Abnormal circulating calcium concentration, Hypop... OMIM:307800
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis, Microc... OMIM:257200
Nephroblastoma
Lymphadenopathy, Hematuria, Neoplasm of the liver ORPHA:654
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia... ORPHA:276
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Diabetes mellitus, Elevated circulating creatine kinase... OMIM:615980
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Anophthalmia, Microphthalmia ORPHA:899
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Secondary hyperparathyroidism, Hypophosphatemia, Elevated circulating parathyroid hormone level, ... OMIM:264700
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Neutropenia, P... ORPHA:98850
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance ORPHA:2348
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperglycemia, T... OMIM:151660
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... OMIM:235700
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia OMIM:604484
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Omenn Syndrome
Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Nephrotic syndrome, Eosinophi... ORPHA:39041
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Adrenal calcification, Hypertriglyceridemia... OMIM:278000
Cockayne Syndrome Type 2
Male hypogonadism, Anophthalmia ORPHA:90322
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Biliary cirrhosis, Cholestasis, Hepatic bridging fibrosis, Bile duct... OMIM:617394
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Elevated circulating parathyroid hormone level, Primary hyperpar... OMIM:239200
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... OMIM:602347
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:615085
Sézary Syndrome
Abnormal lymphocyte morphology, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3162
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... OMIM:619463
Donohue Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:246200
Joubert Syndrome 33
Splenomegaly OMIM:617767
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:612783
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hypophosphatemia, Glycosuria, Hypouricemia, Postprandial hyperglycemia, Hyp... OMIM:227810
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Thrombocytopenia, Increased he... OMIM:263300
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Autoimmune thrombocy... OMIM:613179
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Elevated hepatic iron conce... OMIM:615234
Smith-Magenis Syndrome
Delayed puberty, Hypertriglyceridemia, Hypothyroidism, Hypercholesterolemia, Precocious puberty ORPHA:819
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly, Eosinophilia OMIM:616651
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa... OMIM:616100
Castleman Disease
Generalized lymphadenopathy, Jaundice, Abdominal mass, Anemia, Ureteral obstruction, Renal insuff... ORPHA:160
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD... OMIM:615947
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Secondary hyperparathyroidism, Hypocalcemic seizu... OMIM:277440
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnese... OMIM:618183
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Proteinuria, Decreased glomerular filtration rate, Abnormal urinary electroly... ORPHA:85450
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Increased p... ORPHA:769
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Hurler-Scheie Syndrome
Heparan sulfate excretion in urine, Tracheal stenosis, Hepatomegaly, Dermatan sulfate excretion i... OMIM:607015
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly, Anemia OMIM:618107
Mandibuloacral Dysplasia With Type A Lipodystrophy
Impaired glucose tolerance, Calcinosis, Hyperinsulinemia, Hyperglycemia, Hyperlipidemia, Hypercho... OMIM:248370
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Renal insufficiency, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel... ORPHA:848
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Thrombocyt... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Ketotic hypoglycemia, Recurrent hypoglycemia, Elevated circulating creatine... ORPHA:79240
Trisomy 1Q
Anophthalmia ORPHA:261344
Werner Syndrome
Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia, Hypogonadism OMIM:277700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Hypoplasia of the thymus, Increased circulating ferritin concentration OMIM:619313
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Insulin resistance, Elevated circulating creatine kinase concentration, Hyp... OMIM:613327
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia ORPHA:163596
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... OMIM:601847
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
X-Linked Acrogigantism
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:300373
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... OMIM:600955