Gene: Ipo7 MGI:2152414

Gene Summary

Name:

importin 7

Synonyms:

A330055O14Rik, Imp7, RanBP7

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
embryonic lethality prior to organogenesis	Ipo7^em1(IMPC)Mbp	HOM	E9.5	0.00
increased exploration in new environment	Ipo7^em1(IMPC)Mbp	HET	Middle aged adult	4.38×10^-05
abnormal urinary bladder morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal spleen morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
anophthalmia	Ipo7^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating insulin level	Ipo7^em1(IMPC)Mbp	HET	Early adult	6.52×10^-05
abnormal trachea morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Ipo7^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating phosphate level	Ipo7^em1(IMPC)Mbp	HET	Early adult	2.74×10^-05
abnormal eye morphology	Ipo7^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Ipo7^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal eye morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
increased circulating triglyceride level	Ipo7^em1(IMPC)Mbp	HET	Early adult	5.34×10^-07

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Gross Morphology Embryo E9.5

Images

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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.

Human diseases associated with Ipo7 (0 diseases)
Human diseases predicted to be associated with Ipo7 (810 diseases)

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	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

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Gene: Ipo7 MGI:2152414

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Gross Morphology Embryo E9.5

Human diseases caused by Ipo7 mutations