Gene Summary

Name:
thioredoxin interacting protein
Synonyms:
THIF,  Hyplip1,  VDUP1,  mVDUP1

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
decreased bone mineral density Txniptm1b(EUCOMM)Hmgu HOM   Early adult 6.60×10-05
abnormal retina morphology Txniptm1b(EUCOMM)Hmgu HOM   Early adult 3.17×10-07
decreased bone mineral content Txniptm1b(EUCOMM)Hmgu HOM Early adult 5.22×10-10
increased circulating calcium level Txniptm1b(EUCOMM)Hmgu HOM Early adult 3.52×10-08
increased total body fat amount Txniptm1b(EUCOMM)Hmgu HOM Early adult 5.33×10-11
decreased circulating alkaline phosphatase level Txniptm1b(EUCOMM)Hmgu HOM Early adult 3.65×10-08
increased circulating phosphate level Txniptm1b(EUCOMM)Hmgu HOM Early adult 1.68×10-07
increased circulating triglyceride level Txniptm1b(EUCOMM)Hmgu HOM Early adult 1.03×10-20

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 50% (1 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Oral epithelium  Wholemount images heterozygote 50% (1 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

25 Images

Echo

M-Mode Images

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Txnip 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 Txnip by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia, Recurr... OMIM:615615
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... OMIM:618261
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hypoketotic hypoglycemia, Prolonged prothrombin time, Hyperinsulinemic hypoglycemi... ORPHA:71212
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Hyperlipidemia, Prolonged prothrombin ti... ORPHA:35909
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Immunodeficiency 17
Abnormal intestine morphology, Decreased proportion of CD8-positive T cells, Recurrent gastroente... OMIM:615607
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Decreased circulating antibody level, Gas... OMIM:618108
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Decreased circulating IgA level, Decreased circulating IgG level, Reduced natura... OMIM:619510
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Abnormality of the coagulation cascade, Hepatomegaly, ... ORPHA:79303
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia OMIM:619175
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circulating antibod... OMIM:308240
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel... OMIM:610717
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Eleva... ORPHA:99901
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia, Elevated hepatic transam... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... ORPHA:436182
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinemia, Retinal degeneration, Osteoporosis, Hyperuricemia, Increased bone m... OMIM:239000
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural kill... OMIM:616050
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 8
Lymphopenia OMIM:615401
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Infantile Liver Failure Syndrome 2
Hypoglycemia, Prolonged prothrombin time, Hyperammonemia, Acute hepatic failure, Elevated hepatic... OMIM:616483
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Prolonged prothrombin time, Hyperammonemia, Hyperthreoninemia, Gastrointestina... ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... OMIM:612526
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Prolonged prothrombin time, Hyperammonemia, Cirrhosis, Elevated circulating asparta... OMIM:617049
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Increased circulating IgA level, Decreased lymphocyte proliferation... ORPHA:169154
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperparathyroidism 4
Hypercalcemia, Osteopenia OMIM:617343
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Relapsing Fever
Hyperfibrinogenemia, Prolonged prothrombin time, Elevated hepatic transaminase, Elevated circulat... ORPHA:91547
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Calvarial osteosclerosis, Osteopenia, Metacarpal periosteal thickening, Hyperphosp... OMIM:617994
Infantile Liver Failure Syndrome 3
Hepatomegaly, Prolonged prothrombin time, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute ... OMIM:618641
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of naive T cells, Lymph node hypoplasia, Decreased circulati... ORPHA:276
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Mediastinal lympha... OMIM:615559
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Reduced factor XI activity, Hepatic fibrosis, Nephrotic syndrome, Hypergonadotropic... OMIM:212065
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc... ORPHA:280356
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Diabetes mellitus, Membr... OMIM:608709
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentration, He... OMIM:614817
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increas... OMIM:614921
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Isolated Hyperparathyroidism
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Osteopenia, Infantile hypercalcemia, Generali... ORPHA:99879
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hepatoportal Sclerosis
Hepatocellular carcinoma, Elevated hepatic transaminase, Prolonged prothrombin time, Hyperbilirub... ORPHA:64743
Monosomy 13Q34
Abnormality of the coagulation cascade, Insulin resistance, Prolonged prothrombin time, Epistaxis... ORPHA:96168
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Autoimmune thro... OMIM:614470
Acquired Purpura Fulminans
Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Hypofibrinogenemia, Reduced... ORPHA:49566
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Lacticaciduria, Elevated circulating creati... OMIM:619386
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... OMIM:616516
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Prolonged prothrombin time, Bile duct proliferation, Hyperalaninemia, Macrovesicula... OMIM:618329
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated coagulation factor V activity, Abnormality of coagulation, Hepatoce... ORPHA:88618
Calciphylaxis
Cellulitis, Hyperphosphatemia, Ectopic ossification ORPHA:280062
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient... ORPHA:199296
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Increased circulating cortic... OMIM:610600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Renal... OMIM:255120
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Renal salt wasting, Precocio... OMIM:614736
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Prolonged prothrombin time, Increased total bilirubi... OMIM:603553
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Decreased circulating IgA level, Malabsorption, Reduced natural killer cell count, ... OMIM:242860
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, He... ORPHA:26792
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Prolonged prothrombin time, Bile duc... ORPHA:30391
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... OMIM:604367
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Fasting hypoglycemia, Generalized aminoaciduria, Hepatocellular ... ORPHA:2088
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Enamel hypoplasia, Subperiosteal bone formation, Hyperphosphatemia, Ang... OMIM:211900
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Argininosuccinic ... OMIM:603471
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody level, Splen... ORPHA:2442
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic st... ORPHA:79085
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Hypercholesterol... ORPHA:181393
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Hepatic failure, Jaundice ORPHA:75234
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Hereditary Coproporphyria
Hyponatremia, Hepatocellular carcinoma, Porphyrinuria, Dark urine, Increased urinary porphobilino... ORPHA:79273
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenopathy, Lymphadenitis, Decreased lymp... ORPHA:911
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Abnormality of the coagulation cascade, Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis... OMIM:617156
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Bone cyst ORPHA:2668
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... OMIM:300853
Immunodeficiency 19
Lymphopenia OMIM:615617
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Papilledema OMIM:240150
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Hyperalaninemia, Hepatic steatosis, ... OMIM:619048
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa... OMIM:618534
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Prolonged prothrombin time, Cirrhosis, Decreased liver function, Hepatosplenomegaly... ORPHA:367
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... ORPHA:158057
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Microscopic hematuria, Glomerulopathy, Proteinuria ORPHA:79087
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... ORPHA:94089
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Caspase 8 Deficiency
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i... OMIM:607271
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Central hypothyroidism, Chronic kidney disease, Hyperbilirubinemia, H... ORPHA:1667
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... OMIM:613845
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Hypophosphatemic Bone Disease
Osteomalacia, Hypophosphatemia, Rickets OMIM:146350
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... ORPHA:556037
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly OMIM:609981
Factor V Deficiency
Menorrhagia, Prolonged prothrombin time, Epistaxis, Reduced coagulation factor V activity, Prolon... OMIM:227400
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Bleeding Disorder, Platelet-Type, 14
Ecchymosis, Decreased serum thromboxane B2, Epistaxis, Prolonged bleeding time, Bruising suscepti... OMIM:614158
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hyperph... ORPHA:36913
Fibronectin Glomerulopathy
Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic he... ORPHA:84090
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Elevat... ORPHA:556030
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Ketonuria, Prolonged prothrombin time, Lipid accumulation in hepatocytes, Hyperuric... ORPHA:20
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:331206
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Renal steatosis, Hepatic failure OMIM:261650
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... OMIM:618982
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Increased level of galactitol in urine, Hyperchole... ORPHA:79237
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Increased CD4:CD8 ratio, Impaired lymphocyte tran... OMIM:617006
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Celiac disease, Decreased circulating total I... OMIM:618969
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia OMIM:615883
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:71529
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Splenomegaly, Dysgamm... ORPHA:100025
Glanzmann Thrombasthenia
Ecchymosis, Macroscopic hematuria, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistax... ORPHA:849
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... ORPHA:567544
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Acute pancreatitis, Hypertrigly... OMIM:608600
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... OMIM:264350
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypofibrinogenemia, Splenomegaly, Increased circulating ferritin concentration, Hyp... OMIM:603552
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Abnormal lymp... OMIM:609529
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Elevated c... ORPHA:435660
Pgm3-Cdg
Lactose intolerance, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Decreased... ORPHA:443811
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:324575
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Pancreatitis, Hepatic steatosi... ORPHA:435651
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Thickened cortex of long bones, Papilledema, Increased bone mineral densit... OMIM:127000
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Abnormal localization of kidney,... ORPHA:446
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Increased circulating antibody leve... OMIM:618495
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic ... ORPHA:369
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia, Hyperinsuli... ORPHA:363400
Snakebite Envenomation
Ecchymosis, Hyponatremia, Intracranial hemorrhage, Gingival bleeding, Abnormality of coagulation,... ORPHA:449285
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia OMIM:240200
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:618349
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Prolonged prothrombin time, Hepatitis, Splenomeg... ORPHA:171
C3 Glomerulopathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage 5 chronic kid... ORPHA:329918
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Conge... ORPHA:361
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Hypophosphatemia, Hypophosphatemic rickets, Rickets OMIM:193100
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymp... ORPHA:277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, T lymphocytopenia, Splenomegaly OMIM:608971
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Renal Fanconi syndrome, Hypokalemia, Proximal tu... ORPHA:411634
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets, Rickets OMIM:612089
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Enamel hypoplasia, Osteoporosis, Hyperphosphatemia OMIM:612462
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Prolonged prothrombin time, Neo... OMIM:619055
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption, Lymphopenia OMIM:152800
Rhabdoid Tumor
Hypercalcemia, Hematuria, Neoplasm of the liver, Renal neoplasm, Internal hemorrhage ORPHA:69077
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Hypercholesterolemia, Cirrhosis,... ORPHA:528
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellu... ORPHA:370
Heme Oxygenase 1 Deficiency
Hepatomegaly, Asplenia, Hematuria, Epistaxis, Nephritis, Increased circulating ferritin concentra... OMIM:614034
Alg12-Cdg
Hypospadias, Hyponatremia, Abnormality of the coagulation cascade, Reduced factor XI activity, De... ORPHA:79324
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Osteopenia OMIM:612287
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Mandibuloacral Dysplasia
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... ORPHA:2457
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Hypospadias, Increased serum testosterone level, Decreased circulatin... ORPHA:90791
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Decreased circulating ferritin concentration, Abnormality of coagulation, Prolonged... ORPHA:309854
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Hyperammonemia, Recurrent hypogly... OMIM:212140
Hydroxyprolinemia
Microscopic hematuria, Hydroxyprolinemia OMIM:237000
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... ORPHA:14
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Myoglobinuria, Elevated ... ORPHA:228305
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Adrenal insufficiency, Hypoglycemia, Nephrotic syndrome, Stag... OMIM:617575
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Increase... OMIM:203400
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Hepatic Veno-Occlusive Disease
Hepatomegaly, Abnormality of coagulation, Increased total bilirubin, Prolonged partial thrombopla... ORPHA:890
D-Glyceric Aciduria
Hyperglycinuria, Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty ac... ORPHA:941
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Hypofibrinogenemia, Splenomegaly, Increased circulating ferritin concent... OMIM:300635
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Hypertrigly... OMIM:615381
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Abnormal circulating aldosterone, Cholelithiasis, Glucocortocoid-inse... ORPHA:171876
Acute Liver Failure
Abnormality of the coagulation cascade, Adrenal insufficiency, Intracranial hemorrhage, Hypoglyce... ORPHA:90062
Celiac Disease, Susceptibility To, 1
Abnormality of the coagulation cascade, Prolonged prothrombin time, Thyroiditis, Prolonged partia... OMIM:212750
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypochloremia, Decrea... OMIM:613090
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hyper... OMIM:278000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Cog8-Cdg
Prolonged prothrombin time, Hypoglycemia, Elevated hepatic transaminase, Spontaneous hematomas ORPHA:95428
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia OMIM:616113
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Enamel hypoplasia, Osteoporosis, Hyperphosphatemia OMIM:103580
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia, El... OMIM:619013
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase con... ORPHA:26793
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Microvesicular hepatic steatosis, Renal salt wasting, Hepatic fibrosi... ORPHA:275761
Glycogen Storage Disease Ic
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hepatocellular ca... OMIM:232240
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Myoglobinuri... ORPHA:264580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Porphyria Variegata
Hyponatremia, Hepatocellular carcinoma, Inappropriate antidiuretic hormone secretion, Chronic kid... ORPHA:79473
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Hypoglycemia, Decreased circul... ORPHA:95409
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoim... ORPHA:444463
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypochloremia, Decrea... OMIM:602522
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Reduced factor XII activity, Prolonged prothrombin time, Reduced factor VII... OMIM:619525
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time, Reduced prothrombin consumption OMIM:272650
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... OMIM:177735
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Increased urinary glycerol, Hypertriglyceridemia, Adrenocort... OMIM:307030
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Adrenal Hypoplasia, Congenital
Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Hypogonadotropic hy... OMIM:300200
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Re... OMIM:261680
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Fechtner syndrome
Menorrhagia, Hematuria, Nephritis, Stage 5 chronic kidney disease, Prolonged bleeding time, Abnor... OMIM:153640
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentr... ORPHA:730
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Osteomalacia, Multiple lipomas OMIM:600740
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Follicular hype... OMIM:601859
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Decreased proportion of central memory CD4-positiv... OMIM:616098
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin syst... ORPHA:90790
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia, Osteopenia OMIM:612286
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, El... ORPHA:79240
Liver Failure, Infantile, Transient
Abnormality of the coagulation cascade, Microvesicular hepatic steatosis, Hepatomegaly, Hyperbili... OMIM:613070
Infantile Myofibromatosis
Hypercalcemia, Bone cyst, Chondrocalcinosis, Limitation of joint mobility, Osteolysis ORPHA:2591
Preeclampsia
Chronic kidney disease, Elevated circulating creatinine concentration, Acute kidney injury, Abnor... ORPHA:275555
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Renal dysplasia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroid... OMIM:618183
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Cholestatic liver disease, Nephro... OMIM:602114
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Reduced factor IX activity, Prolonged prothrombin time, Epistaxis, Reduced factor VII activity, R... OMIM:610842
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hypoglycemia, Hepatocellular necrosis, Hep... OMIM:231100
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Medium chain dicarboxylic aciduria, Hepatic steatosis, Hyperglycinuri... OMIM:201450
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Reduced natural killer cell activity, Absent plate... OMIM:608233
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased urinary copper concentration, Increased circulating coppe... ORPHA:209919
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hyp... ORPHA:228308
Prothrombin Deficiency, Congenital
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... OMIM:613679
Congenital Fibrinogen Deficiency
Splenic rupture, Gingival bleeding, Prolonged prothrombin time, Subcutaneous hemorrhage, Micropen... ORPHA:335
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:276580
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Dicarb... OMIM:201475
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hypoparathyroidism, Hypoglycemia, Hepatitis, Decreased circulating A... ORPHA:199299
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Central Diabetes Insipidus
Diabetes insipidus, Hyponatremia, Nocturia ORPHA:178029
Temple Syndrome
Maturity-onset diabetes of the young, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Pancrea... ORPHA:79083
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Hypophosphatemia, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecular... ORPHA:93160
Myh9-Related Disease
Menorrhagia, Nephritis, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Nephropathy, E... ORPHA:182050
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Dicarboxylic acid... ORPHA:42
Hypophosphatasia
Hypercalcemia, Recurrent fractures, Craniosynostosis ORPHA:436
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitu... ORPHA:2348
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Purpura, ... OMIM:161950
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... OMIM:232400
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Depletion of mito... OMIM:251880
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... ORPHA:405
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hyperlipidemia, Stage 5 chronic kidney di... OMIM:600995
Legionnaires Disease
Hyponatremia, Hematuria, Hepatitis, Pancreatitis, Splenomegaly, Proteinuria, Renal insufficiency,... ORPHA:549
Marburg Hemorrhagic Fever
Hyperamylasemia, Abnormality of the coagulation cascade, Hypoglycemia, Hypokalemia, Petechiae, El... ORPHA:99826
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Br... ORPHA:79259
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Atypical Hemolytic Uremic Syndrome
Decreased level of thrombomodulin, Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypospadias, Intracranial hemorrhage, Hypoglycemia, Adrenal insuffici... OMIM:617053
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Prolonged prothrombin time, Reduced factor VIII activity, E... ORPHA:99147
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Rickets OMIM:613388
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Micropenis, Renal insufficiency OMIM:613861
Shigellosis
Hyponatremia, Hypoglycemia, Splenic abscess, Peritonitis, Hemolytic-uremic syndrome, Urethritis, ... ORPHA:810
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Gracile Syndrome
Renal Fanconi syndrome, Decreased transferrin saturation, Elevated hepatic iron concentration, Ci... ORPHA:53693
Mpi-Cdg
Abnormality of the coagulation cascade, Reduced factor XI activity, Hepatomegaly, Hepatic fibrosi... ORPHA:79319
Hemophilia B
Intracranial hemorrhage, Reduced factor IX activity, Joint hemorrhage, Hematuria, Spontaneous, re... ORPHA:98879
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Sialuria
Hepatomegaly, Prolonged prothrombin time, Cholelithiasis, Hepatosplenomegaly, Prolonged partial t... ORPHA:3166
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level ORPHA:100024
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Neonatal hypoglyce... ORPHA:289548
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Abnormality of the coagulation cascade, Hepatomegaly, Petechiae, Abnormal renal physi... ORPHA:540
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... OMIM:619662
Yellow Fever
Elevated circulating creatine kinase concentration, Prolonged prothrombin time, Elevated circulat... ORPHA:99829
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Neonatal hypoglyce... ORPHA:168558
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... ORPHA:276556
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Portal inflammation, Chronic hepatitis... ORPHA:101330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Cholera
Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypoglycemia, Hypokalemia, ... ORPHA:173
Hepatocellular Carcinoma
Portal hypertension, Hyponatremia, Hypercalcemia, Hepatomegaly, Type II diabetes mellitus, Hypogl... ORPHA:88673
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Renal Fanconi syndrome, Generalized aminoaciduria, Nephrolithiasis, G... OMIM:219800
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Retinal calcification, Hypocalcemic tetany, Hypocalce... ORPHA:93325
Hemochromatosis Type 4
Congenital hepatic fibrosis, Increased circulating ferritin concentration, Cirrhosis, Hepatic ste... ORPHA:139491
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... OMIM:273800
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... OMIM:616100
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Hypoglycemia, Decreased circul... ORPHA:85138
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Hyperchlorhidrosis, Isolated