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Gene: Parvb MGI:2153063

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Gene Summary

Name:
parvin, beta
Synonyms:
D15Gsk1,  affixin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Parvbtm1a(EUCOMM)Wtsi HOM Early adult 1.06×10-05
increased bone mineral density Parvbtm1a(EUCOMM)Wtsi HOM Early adult 4.06×10-05
decreased T cell number Parvbtm1a(EUCOMM)Wtsi HOM Early adult 3.12×10-07
decreased circulating cholesterol level Parvbtm1a(EUCOMM)Wtsi HOM Early adult 1.81×10-05
decreased circulating total protein level Parvbtm1a(EUCOMM)Wtsi HOM Early adult 1.28×10-06
increased circulating alanine transaminase level Parvbtm1a(EUCOMM)Wtsi HOM Early adult 1.32×10-06
increased monocyte cell number Parvbtm1a(EUCOMM)Wtsi HOM Early adult 6.17×10-13
increased startle reflex Parvbtm1a(EUCOMM)Wtsi HOM   Early adult 2.26×10-06
increased granulocyte number Parvbtm1a(EUCOMM)Wtsi HOM Early adult 4.47×10-09
decreased NK cell number Parvbtm1a(EUCOMM)Wtsi HOM Early adult 4.10×10-06
decreased bone mineral density Parvbtm1a(EUCOMM)Wtsi HOM Early adult 4.20×10-05
decreased hemoglobin content Parvbtm1a(EUCOMM)Wtsi HOM Early adult 1.47×10-05
decreased circulating serum albumin level Parvbtm1a(EUCOMM)Wtsi HOM Early adult 5.28×10-05
decreased circulating glucose level Parvbtm1a(EUCOMM)Wtsi HOM Early adult 5.12×10-06
decreased circulating iron level Parvbtm1a(EUCOMM)Wtsi HOM Early adult 2.42×10-06

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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.

Phenotype associated images not available

Human diseases caused by Parvb 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 Parvb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Anemia, Intention... OMIM:610539
Immunodeficiency 43
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... OMIM:241600
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteomyelitis, Hypoalbuminemia, Thromb... OMIM:209950
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Diarrhea 13
Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... ORPHA:486
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... ORPHA:507
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility OMIM:619013
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas... OMIM:604250
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Flexion contracture, Hypoproteinemia OMIM:608093
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Tremor, Increase... ORPHA:167
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
Reni Syndrome
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Arthritis, Hyp... ORPHA:247353
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... OMIM:259700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... OMIM:619752
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Osteoart... ORPHA:2298
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia, Anemia ORPHA:2315
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ... OMIM:615895
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... OMIM:208920
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... ORPHA:1667
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... ORPHA:292
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Oste... OMIM:606069
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ... ORPHA:3240
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Thrombocyt... OMIM:608104
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... OMIM:616267
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... ORPHA:231222
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Perianal abscess, Arthritis, Iron deficien... OMIM:301074
Aceruloplasminemia
Torticollis, Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentratio... OMIM:604290
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia OMIM:607765
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Pgm3-Cdg
Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor... ORPHA:443811
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... OMIM:277900
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot... ORPHA:29073
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypocholesterolemia OMIM:266510
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal d... ORPHA:36913
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... ORPHA:276
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Neutropeni... ORPHA:37042
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia ORPHA:67
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly ORPHA:1655
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Tremor, Flexion contracture, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Throm... OMIM:212065
Hemochromatosis, Type 2B
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... OMIM:613313
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Flexion contracture, Leukopenia, Hypoalbuminemia, Neutropenia, An... OMIM:617303
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Normochromic anemia, Hypoalbuminemia, Intention tremor, Thrombocytopenia, Action... OMIM:254900
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating ... ORPHA:36234
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased L... ORPHA:14
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, ... OMIM:617093
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Hypoalbuminemia, Dystonia, Anemia OMIM:619487
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Mpi-Cdg
Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Alg12-Cdg
Hyponatremia, Thrombocytopenia, Recurrent hypoglycemia, Hypoalbuminemia, B lymphocytopenia, Abnor... ORPHA:79324
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Abnormal T cell subset distribution, Arthritis, B lymphocytopenia, Decreased proporti... ORPHA:221139
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count OMIM:612260
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Flexion contracture, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreas... ORPHA:89842
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... OMIM:615513
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Chylomicron Retention Disease
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... ORPHA:94089
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Hypoglycemia, Rickets, Reduced bone mineral density, Anem... OMIM:613658
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero... OMIM:618156
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... OMIM:239000
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:620133
Liver Disease, Severe Congenital
Joint laxity, Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circu... OMIM:619991
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, B lymphocytopenia, T lymphocytopenia OMIM:601457
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Propionic Acidemia
Pancytopenia, Dystonia, Hypoglycemia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycin... OMIM:606054
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Hemochromatosis, Type 2A
Splenomegaly, Arthritis, Increased serum iron, Increased circulating ferritin concentration OMIM:602390
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H... ORPHA:99826
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypog... OMIM:619055
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n... OMIM:617872
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Al Amyloidosis
Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Anemia ORPHA:85443
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Leukopenia, Hypoalbum... ORPHA:505248
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hemochromatosis, Type 1
Diabetes mellitus, Splenomegaly, Increased circulating ferritin concentration, Osteoporosis, Gluc... OMIM:235200
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Hypoa... ORPHA:171
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia, Hypoglycemia OMIM:618329
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... OMIM:222470
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi... ORPHA:186
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Aceruloplasminemia
Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circ... ORPHA:48818
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia, Craniosynostosis ORPHA:79396
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Ataxia-Telangiectasia
Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Tremor, Choreoathetosis,... OMIM:208900
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Joint stiffness, Increased circulating ferritin concentration, Elevated transf... ORPHA:465508
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele... ORPHA:355
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... OMIM:613280
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... OMIM:617156
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis... ORPHA:324964
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Glycogen Storage Disease Ixb
Splenomegaly, Hypoglycemia, Hyperuricemia OMIM:261750
12Q14 Microdeletion Syndrome
Tremor, Abnormality of the spleen, Osteopoikilosis, Diabetes mellitus ORPHA:94063
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia ORPHA:543
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly OMIM:235510
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Sclerosis of skull base, Throm... ORPHA:2905
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... ORPHA:79444
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, T... OMIM:251000
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Galloway-Mowat Syndrome 1
Dystonia, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly OMIM:251300
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Choreoathetosis, Hypero... ORPHA:79443
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Hypocalcemic seizures, Osteopetrosis, Anemia OMIM:612301
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Juvenile Polyposis Of Infancy
Refractory anemia, Hypoalbuminemia, Anemia ORPHA:79076
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... ORPHA:89936
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly OMIM:617729
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia OMIM:241410
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hypogly... ORPHA:199299
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... ORPHA:33364
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c, Dystonia OMIM:616113
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Dietary Iron Overload Disease
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:139507
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Werner Syndrome
Increased bone mineral density, Joint stiffness, Insulin resistance, Osteoporosis, Type II diabet... ORPHA:902
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Osteop... ORPHA:667
Mirage Syndrome
Hyponatremia, Hypoglycemia, Radial club hand, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypopla... OMIM:617053
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Rickets, Glycosuria, Hypophosphatemia OMIM:616026
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Microcytic anemia, Insulin-resistant diabetes mellitus, ... ORPHA:2959
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Pierson Syndrome
Hypoproteinemia OMIM:609049
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Insulin-resistant diabetes mellitus, Hypertr... ORPHA:66628
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... ORPHA:2785
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Insulin-resistant diabetes mellitus, Hypertr... ORPHA:179494
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Xanthelasma, Anemia ORPHA:35687
Desmosterolosis
Splenomegaly, Increased bone mineral density, Osteopetrosis ORPHA:35107
Juvenile Polyposis Syndrome
Brain abscess, Hypoproteinemia, Anemia ORPHA:2929
Desmosterolosis
Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogryposis multip... OMIM:602398
Lead Poisoning
Decreased HDL cholesterol concentration, Cranial hyperostosis, Imbalanced hemoglobin synthesis, A... ORPHA:330015
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,... OMIM:260400
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Anemia, Opisthotonus OMIM:184850
Glycogen Storage Disease Ib
Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia, Neutr... OMIM:232220
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... ORPHA:391487
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,... OMIM:259775
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Diamond-Blackfan Anemia 6
Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume OMIM:612561
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Diabetes mellitus, ... ORPHA:79474
Smith-Lemli-Opitz Syndrome
Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol co... OMIM:270400
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... OMIM:617052
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Rheumatoid arthritis, Ne... OMIM:607944
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Dubowitz Syndrome
Acute lymphoblastic leukemia, Aplastic anemia, Hypocholesterolemia OMIM:223370
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal erythrocyte enzyme leve... ORPHA:101330
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Action tremor, Splenomegaly, Hyperglycinemia, Incr... ORPHA:309854
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy... ORPHA:845
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis... ORPHA:79259
Addison Disease
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... ORPHA:85138
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Joint hypermobility OMIM:617101
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T cells, Elbow fle... ORPHA:508533
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Vici Syndrome
Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Neutropenia, D... OMIM:242840
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... ORPHA:90652
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Glycogen Storage Disease Ia
Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia, Fasting hypoglycemia OMIM:232200
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenome... OMIM:619534
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... ORPHA:99867
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia ORPHA:75565
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Primary Hyperoxaluria
Generalized osteosclerosis, Hyperoxaluria, Recurrent fractures ORPHA:416
Agammaglobulinemia, X-Linked
T lymphocytopenia, B lymphocytopenia, Neutropenia, Septic arthritis, Anemia OMIM:300755
Tyrosinemia, Type I
Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegal... OMIM:276700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Elevated circulating creatine kinase concentra... OMIM:253800
Glycogen Storage Disease Ic
Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia OMIM:232240
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Reduced thyroxin-binding globulin, Insulin... ORPHA:79318
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Increased susceptibility to fractures, ... ORPHA:3337
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... OMIM:617301
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Abnormal circulating lipid concentratio... ORPHA:904
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia, Joint stiffness ORPHA:847
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... ORPHA:84064
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Contracture of the proximal interphalangeal joint of the 4th finger, T lym... OMIM:618223
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Exaggerated startle response OMIM:616881
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Exaggerated startle response OMIM:617864
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Decreased serum iron, Osteoporosis, Dysto... ORPHA:438213
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Hypoasparaginemia OMIM:615574
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Splenopancreatic fusion, Opisthotonus, Sclerosis of skull base, ... OMIM:269150
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Dystonia, Contractures of ... ORPHA:521426
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Dystonia ORPHA:79255
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response OMIM:617527
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Joint hypermobility OMIM:619522

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 Parvb

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 Parvb.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Parvbtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Parvbtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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