Gene Summary

Name:
heat shock protein, alpha-crystallin-related, B6
Synonyms:
Hsp20

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
increased bone mineral density Hspb6em1(IMPC)J HOM Early adult 3.46×10-09
increased bone mineral content Hspb6em1(IMPC)J HOM Early adult 4.05×10-09
decreased circulating HDL cholesterol level Hspb6em1(IMPC)J HOM Early adult 9.46×10-07
abnormal cornea morphology Hspb6em1(IMPC)J HOM Early adult 1.93×10-05
increased mean corpuscular volume Hspb6em1(IMPC)J HOM Early adult 2.85×10-12
increased circulating alkaline phosphatase level Hspb6em1(IMPC)J HOM Early adult 4.44×10-07
abnormal retina morphology Hspb6em1(IMPC)J HOM Early adult 1.96×10-05
decreased erythrocyte cell number Hspb6em1(IMPC)J HOM Early adult 8.00×10-09
increased grip strength Hspb6em1(IMPC)J HOM Early adult 1.26×10-06
increased fasting circulating glucose level Hspb6em1(IMPC)J HOM Early adult 3.14×10-06
preweaning lethality, incomplete penetrance Hspb6em1(IMPC)J HOM   Early adult 0.00
increased mean corpuscular hemoglobin Hspb6em1(IMPC)J HOM Early adult 2.48×10-11
increased circulating triglyceride level Hspb6em1(IMPC)J HOM Early adult 1.78×10-07
thrombocytosis Hspb6em1(IMPC)J HOM Early adult 1.06×10-06
abnormal bone structure Hspb6em1(IMPC)J HOM Early adult 3.27×10-06
decreased hematocrit Hspb6em1(IMPC)J HOM Early adult 2.48×10-05
decreased hemoglobin content Hspb6em1(IMPC)J HOM Early adult 3.32×10-05
decreased circulating cholesterol level Hspb6em1(IMPC)J HOM Early adult 4.21×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Hspb6 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 Hspb6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Glucose intolerance, Diabetes mellitus, Hyper... OMIM:610947
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Splenomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Niemann-Pick Disease, Type B
Abnormal macular morphology, Splenomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, ... OMIM:607616
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Thrombocytosis, Elevated ... OMIM:604416
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Opacification of the corneal stroma, Normochromic anemia,... OMIM:245900
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... OMIM:603552
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Anemia, Decreased mea... OMIM:615234
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Salmonella... OMIM:209950
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Septic arthritis, Macrocytic anemia, Anemia o... OMIM:617780
Thrombocythemia 3
Thrombocytosis OMIM:614521
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia OMIM:619175
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Opacification of the corneal strom... OMIM:136120
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Cataract, Increased bone density with cystic cha... OMIM:136300
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Thrombocytosis, Coombs-positive hemolytic anemia, E... OMIM:614034
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Osteoporosis, Neutropenia, Increased mean corpuscular volume, ... ORPHA:2169
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosi... ORPHA:210110
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:615703
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia, Optic atrophy OMIM:615085
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Decreased serum iron, Anisocytosis, Retinal atrophy, Anemia, ... OMIM:616959
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Optic atrophy, Hypocalcemia, Sple... OMIM:259700
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Retinal hemorrhage, Acute myeloid leuke... ORPHA:86839
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia, Macrocytic anemia OMIM:612561
Oslam Syndrome
Abnormality of neutrophils, Radioulnar synostosis, Increased mean corpuscular volume ORPHA:2760
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Anemia, Optic disc pallor, Osteopetrosis, ... OMIM:611490
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Elbow flexion contracture, Hypertriglyceridem... OMIM:616516
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Osteopenia, Splenomegaly, Osteoporosis, Increased susceptibilit... ORPHA:231222
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Corneal opacity, Hemolytic anemia, Hypertr... ORPHA:650
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Anemia, Arthritis ORPHA:37748
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Albers-Schönberg Osteopetrosis
Recurrent fractures, Optic atrophy, Hypocalcemia, Osteoarthritis, Abnormal leukocyte morphology, ... ORPHA:53
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Diabete... OMIM:612526
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular vol... OMIM:277410
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Rod-cone dystrophy, Retinal dystrophy, Hypocholesterolemia, Steatorrhea OMIM:266510
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density, Optic atrophy ORPHA:178377
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Optic atrophy, Acanthocytosis, Elevated circulating creatine kinase concent... ORPHA:96180
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia OMIM:610717
Sclerosteosis
Craniofacial hyperostosis, Optic atrophy, Abnormal cortical bone morphology, Increased bone miner... ORPHA:3152
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Thrombocyto... ORPHA:824
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hypertriglyceridemia OMIM:614480
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Flexion contracture, Thrombocytosis, Rod-cone dystrophy, Hypoalbuminemia, Hypocholest... OMIM:212065
Diamond-Blackfan Anemia 7
Osteopenia, Osteoporosis, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Flexion contracture, Osteomyelitis, Erythroid hyperplasia,... OMIM:609628
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Poems Syndrome
Sclerosis of foot bone, Thrombocytosis, Sclerosis of hand bone, Sclerosis of skull base, Papilled... ORPHA:2905
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatosplenomegaly, Joint hypermobility, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... ORPHA:158061
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Splenomegaly, Increased bone mineral density ORPHA:2204
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Thrombocytosis, Hypocalcemia, Osteoporosis, Iron deficiency anemia, Mac... OMIM:212750
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density, Optic atrop... OMIM:239100
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Joint stiffness, Thrombocytosis, Elevated circulating C-reactive protein concentratio... OMIM:615934
Glycerol Kinase Deficiency
Hypoglycemia, Osteoporosis, Hypertriglyceridemia, Pathologic fracture OMIM:307030
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Anemia, E... ORPHA:300298
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Type II diabetes mellitus, Hype... OMIM:618620
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Temple Syndrome
Flexion contracture, Hypercholesterolemia, Joint hypermobility, Hypertriglyceridemia, Maturity-on... OMIM:616222
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Chylomicron Retention Disease
Retinopathy, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Developmental cataract, Transient hypophosphatemia, Increased bone mineral... OMIM:127000
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Splenom... ORPHA:79240
Abetalipoproteinemia
Corneal ulceration, Osteopenia, Decreased LDL cholesterol concentration, Hypopigmentation of the ... ORPHA:14
Cholesteryl Ester Storage Disease
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Astigmatism, Optic nerve hypoplasia, Thrombocytopenia ORPHA:261250
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Developmental glaucoma, Thrombocytosis, Erythroid hypoplasia,... ORPHA:124
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Beta-Ketothiolase Deficiency
Hypoglycemia, Leukocytosis, Thrombocytosis, Hyperuricemia, Hyperglycemia, Hyperammonemia ORPHA:134
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Splenomegaly, Osteoporosis, Elevated ci... ORPHA:264580
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Developmental cataract, Decreased L... OMIM:616834
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hyperbilirubinemia, Hypocholesterolemia, Rickets, Steatorrhea OMIM:607765
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Anemia, Bone-marrow foam cell... OMIM:278000
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Tangier Disease
Hepatosplenomegaly, Corneal opacity, Anemia, Hypertriglyceridemia, Hypocholesterolemia, Thrombocy... ORPHA:31150
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Osteoporos... ORPHA:231214
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertr... OMIM:604367
Immunodeficiency 92
Leukocytosis, Thrombocytosis, Osteomyelitis, B lymphocytopenia, Decreased proportion of class-swi... OMIM:619652
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Osteopetrosis, Abnormality of thrombocyte... OMIM:612840
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Osteopenia, Recurrent fractures, Increased bone mineral density, Retin... OMIM:239000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Type I diabetes mellitus, Thrombocyto... OMIM:615688
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Reduced C-peptide level, Elevated hemoglobin A1c, Hyperglycemia, Type I di... OMIM:618858
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Nonketotic hypoglycemia, Thrombocytosis, Recurrent hypoglycemia, Hyperu... ORPHA:20
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Decreased ci... OMIM:207750
Proteasome-Associated Autoinflammatory Syndrome 3
Flexion contracture, Splenomegaly, Thrombocytopenia, Conjunctivitis, Anemia, Hypertriglyceridemia... OMIM:617591
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia ORPHA:280356
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Increased bone mineral density, Osteopenia, Splenomegaly, Osteoarthriti... ORPHA:77259
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hypergalacto... ORPHA:247598
Congenital Generalized Lipodystrophy
Increased C-peptide level, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Bone cyst,... ORPHA:528
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Insulin resistance, Osteoporosis, Diabetes mellitus, Hypertriglyceridemia OMIM:615381
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:613877
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Majeed Syndrome
Leukocytosis, Flexion contracture, Congenital hypoplastic anemia, Increased bone mineral density,... ORPHA:77297
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypoglycemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis, Decreased LDL cholesterol concentration OMIM:615558
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Osteopenia, Diabetes mellitus, Hypertriglyceridemia, Postprandi... ORPHA:2088
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Joint hemorrhage, Abnormal erythrocyte morphology, I... ORPHA:324636
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemi... ORPHA:88673
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diabet... OMIM:606176
Seckel Syndrome 10
Glycosuria, Insulin resistance, Retinal detachment, Elevated hemoglobin A1c, Diabetes mellitus, H... OMIM:617253
Gaisböck Syndrome
Increased hematocrit, Increased circulating renin level, Hypercholesterolemia, Increased mean cor... ORPHA:90041
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... ORPHA:540
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Catara... ORPHA:94089
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Osteopenia, Hyperinsulinemia, Insulin resistance, Splenomegaly, Osteoporosis... OMIM:613327
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Osteolytic defects of the distal phal... ORPHA:2457
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Splenomegaly, Hypertriglyceridemia OMIM:613027
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Recurrent fractures, Histiocytosis, Corneal arcus, Osteoly... ORPHA:168569
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Gaucher Disease
Pancytopenia, Cherry red spot of the macula, Retinopathy, Abnormal macular morphology, Osteopenia... ORPHA:355
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circ... OMIM:210250
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification, ... OMIM:215045
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia OMIM:615486
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Hypopigmentation of the fundus, Cataract, Retinal detachment, Abn... ORPHA:163649
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Thrombocytosis, Autoimmune hemolytic anemia, Impaired lymphocyte transformation wit... OMIM:243150
Castleman Disease
Myelofibrosis, Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corp... ORPHA:160
Camurati-Engelmann Disease
Diaphyseal sclerosis, Optic nerve compression, Increased bone mineral density, Sclerosis of skull... OMIM:131300
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Cataract, Hyperphosphatemia,... ORPHA:36913
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Optic nerve compression, Anemia, ... OMIM:259730
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase co... ORPHA:370
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Cogan Syndrome
Leukocytosis, Thrombocytosis, Anemia, Keratitis, Conjunctivitis ORPHA:1467
Alstrom Syndrome
Subcapsular cataract, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Pigme... OMIM:203800
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia ORPHA:363400
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Insu... ORPHA:66628
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Retinal detachment, Abnormal bone ossification, B lymphocyt... ORPHA:79324
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Brucellosis
Leukopenia, Leukocytosis, Hip osteoarthritis, Chorioretinitis, Thrombocytosis, Knee osteoarthriti... ORPHA:1304
Lysinuric Protein Intolerance
Osteoporosis, Anemia, Thrombocytopenia, Hyperammonemia, Decreased HDL cholesterol concentration, ... ORPHA:470
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Insu... ORPHA:179494
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Splenomegaly, Insulin-resistant diabetes mellitus, Hyperuricemia, Diabetes me... ORPHA:79083
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea, Reduced bone ... ORPHA:2611
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Chronic Visceral Acid Sphingomyelinase Deficiency
Cherry red spot of the macula, Osteopenia, Hyperlipidemia, Abnormal circulating lipid concentrati... ORPHA:77293
Trichohepatoenteric Syndrome 1
Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, Hypoalbuminemia, Increased s... OMIM:222470
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Hyperlipoproteinemia, Splenomegaly, Decreased HD... OMIM:615947
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Osteopenia, Hyperlipidemia, Hypercholesterolemia, Chronic ne... ORPHA:79259
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating cre... ORPHA:435660
Xp21 Deletion Syndrome
Joint laxity, Osteoporosis, Elevated circulating creatine kinase concentration, Hypertriglyceride... ORPHA:261476
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Osteopenia, Osteoporosis, Hyperlipidemia ORPHA:369
Trichothiodystrophy
Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral density, Develo... ORPHA:33364
Dysbetalipoproteinemia
Corneal arcus, Hypercholesterolemia, Xanthelasma, Diabetes mellitus, Hypertriglyceridemia, Increa... ORPHA:412
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Abnormal trabecular bone morphology, Optic nerve compression, Splenomegaly... OMIM:612301
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance ORPHA:2348
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hypocholesterolemia, Developmental cataract OMIM:618810
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Myelofibrosis, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative... ORPHA:3260
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... OMIM:618278
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Neutral Lipid Storage Disease With Ichthyosis
Subcapsular cataract, Abnormal granulocyte morphology, Hypertriglyceridemia, Abnormal circulating... ORPHA:98907
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Abetalipoproteinemia
Abetalipoproteinemia, Retinopathy, Retinal degeneration, Acanthocytosis OMIM:200100
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Mody
Glycosuria, Retinopathy, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hem... ORPHA:552
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Smith-Magenis Syndrome
Joint stiffness, Hypercholesterolemia, Microcornea, Retinal detachment, Hypertriglyceridemia ORPHA:819
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Primary congenital glaucoma, Thrombocytosis, Elevated red cell ade... OMIM:105650
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture, Reduced C-peptide level OMIM:618856
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Unicameral bone cyst, Abnormal circulating lipid concentrat... ORPHA:79086
Dysosteosclerosis
Increased bone mineral density, Recurrent fractures, Craniofacial hyperostosis, Coarse metaphysea... ORPHA:1782
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypoglycemia, Neonatal hypoglycemia, Accessory spleen, Splenomegaly, Joint hypermobility, Anemia,... OMIM:619418
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Increased susceptibility to fractures... ORPHA:77261
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Elevated circulating C-reactive protein concentration, Anemia, Osteo... ORPHA:324964
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Diabetes mel... ORPHA:444490
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Syndromic Diarrhea
Thrombocytosis, Splenomegaly, Abnormality of iron homeostasis, Hypoplasia of the thymus, Lymphope... ORPHA:84064
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... ORPHA:247585
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Neutropenia, Iris hypopigmentation ORPHA:79477
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:435651
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Griscelli Syndrome Type 1
Retinopathy, Hyperlipidemia, Iris hypopigmentation ORPHA:79476
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Irregular ossification at anterior rib ends, Neutropenia, A... OMIM:260400
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Recurrent fractures, Abnormal retinal morphology, Hypocalcemia, Elevate... ORPHA:2785
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperlipidemia OMIM:232400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Splenomegaly, Osteolytic defects of the phalanges of the hand, Diabetes melli... ORPHA:280365
Hyperoxaluria, Primary, Type I
Retinopathy, Increased bone mineral density, Optic atrophy, Optic neuropathy, Pathologic fracture... OMIM:259900
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Erdheim-Chester Disease
Increased bone mineral density, Xanthelasma, Anemia, Osteomyelitis, Osteolysis ORPHA:35687
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Insulin resistance, Abnormal circulating lipid concentration, Elevated circulatin... OMIM:615980
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia, Hyperargininemia OMIM:603471
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Cholestasis-Lymphedema Syndrome
Reduced bone mineral density, Splenomegaly, Hyperlipidemia ORPHA:1414
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Cataract, Facial hyperostosis, Osteopetrosis, Coarse metaphyseal ... ORPHA:2780
Cholestasis-Lymphedema Syndrome
Splenomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Leukocyte Adhesion Deficiency
Leukocytosis, Impaired neutrophil chemotaxis, Coronal craniosynostosis, Impaired platelet aggrega... ORPHA:2968
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Flexion contracture, Joint stiffness, Osteolytic defects of the phalanges of the hand... OMIM:619127
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Flexion contracture, Elbow flexion contracture, Punctate opacification of the ... OMIM:256040
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Leukopenia, Insulin resistance, Hyperins... ORPHA:2298
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Glycogen Storage Disease Ib
Hypoglycemia, Hyperlipidemia, Osteoporosis, Hyperuricemia, Neutropenia, Xanthelasma, Gout, Lipemi... OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Atypical Werner Syndrome
Glycosuria, Developmental cataract, Retinal degeneration, Increased bone mineral density, Hyperin... ORPHA:79474
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hyponatremia, Vacuolated lymphocytes, Hypercholesterolemia, Hyperkalemia, Xan... ORPHA:275761
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Increased bone mineral density, Abnormal trabecular bone morp... ORPHA:289176
Pseudohypoparathyroidism Type 1A
Band keratopathy, Hypocalcemic seizures, Increased bone mineral density, Abnormal platelet functi... ORPHA:79443
Pycnodysostosis
Hepatosplenomegaly, Increased bone mineral density, Coronal craniosynostosis, Joint laxity, Osteo... ORPHA:763
Eisenmenger Syndrome
Abnormal B-type natriuretic peptide level, Elevated circulating C-reactive protein concentration,... ORPHA:97214
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Astigmatism, Joint hypermobility, Keratoconjunctivitis sicca, Diabetes mellitus, Hype... ORPHA:536532
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hypoalbuminemia, Hyp... ORPHA:90363
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis, Optic atrophy OMIM:618476
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin ORPHA:98791
Kaufman Oculocerebrofacial Syndrome
Microcornea, Hypocholesterolemia, Optic disc pallor, Astigmatism OMIM:244450
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density ORPHA:85184
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Presenile cataracts, Diaphyseal c... OMIM:112250
12Q14 Microdeletion Syndrome
Osteopoikilosis, Abnormality of the spleen, Diabetes mellitus ORPHA:94063
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Sanjad-Sakati Syndrome
Hypocalcemia, Corneal opacity, Patchy osteosclerosis, Astigmatism, Hyperphosphatemia ORPHA:2323
X-Linked Lymphoproliferative Disease
Pancytopenia, Increased circulating ferritin concentration, T lymphocytopenia, Hepatosplenomegaly... ORPHA:2442
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Optic nerve compression, Recurrent fractures, Hypocalcemia, Splenomegaly, Anemi... ORPHA:667
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Microtriplication 11Q24.1
Keratoconus, Hyperlipidemia, Limitation of joint mobility ORPHA:289522
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Hypochromic anemia, Leukocytosis OMIM:618213
Bardet-Biedl Syndrome 9
Retinal degeneration, Cataract, Astigmatism, Rod-cone dystrophy, Bone spicule pigmentation of the... OMIM:615986
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Cataract, Calcinosis, Ectopi... ORPHA:79444
Werner Syndrome
Joint stiffness, Increased bone mineral density, Insulin resistance, Abnormality of retinal pigme... ORPHA:902
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of calvaria, Absent ossification of thoracic vertebral bodies, Sclerotic scap... OMIM:601376
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Osteopenia, Hypercalcemia, Astigmatism, Joint hypermobility, Hypertriglyceridemia ORPHA:369837
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Elevated circulating C-reactiv... OMIM:619573
Schwartz-Jampel Syndrome
Joint stiffness, Increased bone mineral density, Microcornea, Cataract, Osteoporosis, Elevated ci... ORPHA:800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Osteolytic defects of the distal phalanges... OMIM:608612
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Desmosterolosis
Osteopetrosis, Splenomegaly, Increased bone mineral density ORPHA:35107
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Joint stiffness, Optic nerve hypoplasia, Anemia, Diabetes mellitus, Hyperglycemia OMIM:609069
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Splenomegaly, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceride... OMIM:608594
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Postprandial hyperglycemia ORPHA:2089
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Polycythemia OMIM:260900
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Splenomegaly, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceride... OMIM:269700
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Alagille Syndrome 1
Band keratopathy, Abnormal anterior chamber morphology, Hypercholesterolemia, Posterior embryotox... OMIM:118450
Raine Syndrome
Neonatal death, Hypophosphatemia, Increased bone mineral density, Arthrogryposis multiplex congenita OMIM:259775
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Joint stiffness, Hyperlipidemia, Hyperinsulinemia, Osteolytic defects of the... OMIM:248370
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis, Hypocalcemic seizures OMIM:241410
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Stiff interphalangeal joints, Joint stiffness, Sple... ORPHA:465508
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Methanol Poisoning
Hyperlipidemia, Type I diabetes mellitus, Type II diabetes mellitus, Abnormality of the optic nerve ORPHA:31825
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Doors Syndrome
Thrombocytosis, Sagittal craniosynostosis, Cataract, Optic atrophy ORPHA:79500
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Developmental glau... ORPHA:90652
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Insulin resistance, Osteolytic defects of the distal phalang... ORPHA:90153
Desmosterolosis
Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogryposis multip... OMIM:602398
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Hyperglycemia, Thrombocytopenia, Abnormal glucose homeos... ORPHA:391673
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Abnormal proportion of naive CD4 T cells, Corneal opacity, Neutropenia, Anemia, L... ORPHA:1830
X-Linked Hypophosphatemia
Craniosynostosis, Arthritis, Limitation of joint mobility, Vertebral hyperostosis, Enthesitis, Ge... ORPHA:89936
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol concentr... ORPHA:330015
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Primary Hyperoxaluria
Retinopathy, Recurrent fractures, Optic atrophy, Generalized osteosclerosis, Optic disc pallor, C... ORPHA:416
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma, Gout, Lipemia retinalis OMIM:232200
Lipodystrophy, Familial Partial, Type 7
Developmental cataract, Insulin resistance, Hypercholesterolemia, Cataract, Pigmentary retinopath... OMIM:606721
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Aplastic anemia, Pure red cell a... ORPHA:99867
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Osteoporosis, Increased circulating cortisol level OMIM:615954
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Joint stiffness, Anemia, Abnormal hemoglobin, Optic atrophy ORPHA:847
Fabry Disease
Hyperlipidemia, Corneal dystrophy, Optic atrophy, Abnormal circulating lipid concentration, Catar... ORPHA:324
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Smith-Lemli-Opitz Syndrome
Cataract, Epiphyseal stippling, Hypocholesterolemia, Elevated 7-dehydrocholesterol OMIM:270400
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Leukocytosis, Hypercholesterolemia ORPHA:90065
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin resistance, Osteolytic defects of the distal phalanges of the hand, Calci... ORPHA:90154
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Increased bone mineral density, Facial hyperostosis, Osteopetrosis, Elbow a... ORPHA:2658
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Primary Lipodystrophy
Type II diabetes mellitus, Splenomegaly, Insulin resistance, Hyperlipidemia ORPHA:90970
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Increased susceptibility to fractures, Osteoporosis, Paradoxical increased cortis... ORPHA:189427
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Increased susceptibility to fractures, Osteoporosis, Paradoxical increased cortis... ORPHA:189439
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Abnormal cornea morphology, Abnormal blood ion concentration, Corneal cr... ORPHA:411629
Williams Syndrome
Osteopenia, Increased bone mineral density, Joint stiffness, Hypercalcemia, Posterior embryotoxon... ORPHA:904
Aromatase Deficiency
Osteopenia, Insulin resistance, Hyperlipidemia, Osteoporosis, Type II diabetes mellitus, Delayed ... ORPHA:91
Blomstrand Lethal Chondrodysplasia
Cataract, Synostosis of joints, Increased bone mineral density ORPHA:50945
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Diabetes mellitus, Abnormal circulating creatine kinase concentration ORPHA:98908
Familial Multiple Lipomatosis
Hyperlipidemia, Insulin resistance, Chorioretinitis ORPHA:199276
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Cataract, Corneal opacity, Optic disc hypoplasia, Joint hypermobility, Pigmentary ret... ORPHA:3455
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Sclerosteosis 1
Sclerotic scapulae, Cortically dense long tubular bones, Optic atrophy, Facial palsy secondary to... OMIM:269500
Carnitine Palmitoyltransferase Ii Deficiency
Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating acylcarnitine concentratio... ORPHA:157
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Vacuolated lymphocytes, Splenomegaly, Elevated circulating creatine kinase concen... ORPHA:565612
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Hyperlipidemia, Hyperuricemia ORPHA:35909
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcarnitine concentratio... ORPHA:228308
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Hypertriglyceridemia OMIM:264090
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Splenomegaly, Conjugated hyperbilirubinemia, Hyper... ORPHA:567983
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Diabetes mellitus ORPHA:439232
Schinzel-Giedion Midface Retraction Syndrome
Thickened cortex of long bones, Splenopancreatic fusion, Increased density of long bones, Scleros... OMIM:269150
Alström Syndrome
Retinal pigment epithelial atrophy, Hepatosplenomegaly, Hyperlipidemia, Hyperinsulinemia, Insulin... ORPHA:64
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Osteopenia, Hyperlipidemia, Insulin-resistant diabetes mellitus ORPHA:3464
Glycogen Storage Disease Ic
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma, Gout OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Turner Syndrome
Osteopenia, Hyperlipidemia, Hyperinsulinemia, Neck pterygia, Osteoporosis, Type II diabetes melli... ORPHA:881
Mosaic Monosomy X
Osteopenia, Hyperlipidemia, Hyperinsulinemia, Neck pterygia, Osteoporosis, Type II diabetes melli... ORPHA:99228
Monosomy X
Osteopenia, Hyperlipidemia, Hyperinsulinemia, Neck pterygia, Osteoporosis, Type II diabetes melli... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Hyperlipidemia, Hyperinsulinemia, Neck pterygia, Osteoporosis, Type II diabetes melli... ORPHA:99413
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus OMIM:241080
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hspb6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hspb6.

No publications found that use IMPC mice or data for Hspb6.

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MGI Allele Allele Type Produced
Hspb6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hspb6em1(IMPC)J Exon Deletion Mice

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