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Gene: Usp12 MGI:1270128

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Gene Summary

Name:
ubiquitin specific peptidase 12
Synonyms:
Ubh1

Order Alleles

IMPC Data Collections

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
oligodactyly Usp12tm1a(EUCOMM)Hmgu HET Early adult 7.47×10-08
impaired glucose tolerance Usp12tm1b(EUCOMM)Hmgu HOM Early adult 8.22×10-05
increased circulating alkaline phosphatase level Usp12tm1b(EUCOMM)Hmgu HOM Early adult 3.30×10-05
increased IgG3 level Usp12tm1a(EUCOMM)Hmgu HOM Early adult 2.85×10-07
decreased mean corpuscular volume Usp12tm1a(EUCOMM)Hmgu HOM   Early adult 5.28×10-05
increased circulating amylase level Usp12tm1a(EUCOMM)Hmgu HOM Early adult 1.12×10-06
decreased lean body mass Usp12tm1a(EUCOMM)Hmgu HET Early adult 3.10×10-05
increased IgM level Usp12tm1a(EUCOMM)Hmgu HOM Early adult 3.36×10-06
decreased mean corpuscular hemoglobin concentration Usp12tm1a(EUCOMM)Hmgu HOM Early adult 1.85×10-07
increased circulating cholesterol level Usp12tm1b(EUCOMM)Hmgu HOM Early adult 5.25×10-05
decreased CD8-positive, alpha-beta T cell number Usp12tm1a(EUCOMM)Hmgu HOM Early adult 1.75×10-09
decreased T cell number Usp12tm1a(EUCOMM)Hmgu HOM Early adult 1.43×10-05
abnormal urination Usp12tm1a(EUCOMM)Hmgu HOM   Early adult 7.70×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 1)
Bone marrow N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 1)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 1)
Diaphragm N/A heterozygote 0.0% (0 of 1)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 1)
Submandibular gland N/A heterozygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 1)
Urinary bladder N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

24 Images

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Adult LacZ

LacZ Images Wholemount

4 Images

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Human diseases caused by Usp12 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 Usp12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Increased circulating antibody le... OMIM:247800
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Oligodactyly OMIM:614416
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Transcobalamin Deficiency
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti... ORPHA:859
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 96
Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Decreased circulating ... OMIM:619774
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... OMIM:616005
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp... ORPHA:3104
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia ORPHA:37748
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... OMIM:620282
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Increased circulating antibody leve... ORPHA:100024
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:618048
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia OMIM:612526
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level OMIM:618495
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha... OMIM:201170
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... OMIM:617099
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Activated Pi3K-Delta Syndrome
Splenomegaly, B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody ... ORPHA:397596
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, Abnormality of humor... ORPHA:277
Boutonneuse Fever
Renal insufficiency, Leukopenia, Increased circulating IgG level, Increased circulating IgM level... ORPHA:83313
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 3rd toe, Clinodactyly... ORPHA:521308
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... ORPHA:276
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas... ORPHA:1307
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De... OMIM:615559
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... OMIM:144650
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... OMIM:618986
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Abno... OMIM:226990
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Increased circ... OMIM:615816
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... OMIM:619313
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency 104
Splenomegaly, T lymphocytopenia OMIM:608971
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Pgm3-Cdg
Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T... ORPHA:443811
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Igg4-Related Aortitis
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... ORPHA:449400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... OMIM:613101
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Splenomegaly, Anemia, Leukopenia, Nephrotic syndrome, Focal segmental glomeruloscler... OMIM:617303
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... ORPHA:98870
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... ORPHA:507
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Splenomegaly, Leukopenia, Decreased circulating total IgM, Lymph... OMIM:620210
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased circulating IgG level, Decreased circulating antibody level, Decreased... ORPHA:90362
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... OMIM:615758
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Monoclonal elevation ... ORPHA:91139
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic aciduria,... OMIM:275350
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Leukopeni... OMIM:615934
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... OMIM:602418
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Forearm undergrowth, Talipes eq... OMIM:251230
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular... OMIM:617021
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... OMIM:206920
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Immunodeficiency 67
Transient neutropenia, Liver abscess, Increased circulating IgE level OMIM:607676
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia ORPHA:77296
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Nephroti... ORPHA:505248
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... ORPHA:528
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young OMIM:616222
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati... ORPHA:329918
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... ORPHA:848
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Clinodactyly of the 5th finger, Short foot, Oligodactyly OMIM:619758
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Functional abnormality of the bladder OMIM:300076
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Seve... OMIM:102700
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... ORPHA:2538
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... OMIM:146510
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom... OMIM:277410
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... ORPHA:412
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... OMIM:301078
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi... ORPHA:2169
Rift Valley Fever
Hematuria, Increased circulating IgG level, Increased circulating IgM level, Anemia, Thrombocytop... ORPHA:319251
Myeloma, Multiple
Paraproteinemia OMIM:254500
Agammaglobulinemia, X-Linked
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Decrea... OMIM:300755
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... ORPHA:1788
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Increased circul... ORPHA:297
Lassa Fever
Increased circulating IgM level, Oliguria ORPHA:99824
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... ORPHA:3392
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Increased circulating IgE level, A... OMIM:304790
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... OMIM:602450
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... OMIM:616433
Autoimmune Hepatitis
Glomerulonephritis, Splenomegaly, Increased circulating IgG level, Increased circulating antibody... ORPHA:2137
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Brucellosis
Liver abscess, Lung abscess, Glomerulonephritis, Elevated circulating C-reactive protein concentr... ORPHA:1304
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Proteinuria, Decreased circulating complement factor B ... ORPHA:2298
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Yellow Fever
Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, In... ORPHA:99829
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, S... ORPHA:449395
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Ataxia-Telangiectasia
Decreased circulating IgG level, Elevated circulating alpha-fetoprotein concentration, Decreased ... OMIM:208900
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Th... OMIM:617591
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... OMIM:614900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... ORPHA:79240
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... OMIM:127550
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Primary Biliary Cholangitis
Increased circulating IgA level, Conjugated hyperbilirubinemia, Increased circulating IgM level, ... ORPHA:186
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE le... ORPHA:449432
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Adult-Onset Nemaline Myopathy
Paraproteinemia, Mildly elevated creatine kinase ORPHA:171442
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte proliferation, Ab... ORPHA:99867
Japanese Encephalitis
Hyponatremia, Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level, Hyperbilirubinemia ORPHA:562639
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Elevated circulating C-reactive... ORPHA:2902
Waldenström Macroglobulinemia
Normocytic anemia, Cryoglobulinemia, Renal insufficiency, Abnormality of neutrophils, Splenomegal... ORPHA:33226
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De... OMIM:300972
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis... ORPHA:470
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Prolidase Deficiency
Hyperimidodipeptiduria, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia OMIM:170100
Lead Poisoning
Decreased HDL cholesterol concentration, Chronic kidney disease, Imbalanced hemoglobin synthesis,... ORPHA:330015
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hematuria, Increased ... ORPHA:77259
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... ORPHA:69085
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Unilateral renal agenesis, Abnormal T... ORPHA:221139
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Diamond-Blackfan Anemia 7
Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter... OMIM:612562
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Fasting h... ORPHA:264580
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Mevalonic Aciduria
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:610377
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Tubulointerstitial nephritis, ... ORPHA:79078
Baller-Gerold Syndrome
Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Limited... OMIM:218600
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Anemia, Decreased circulating total IgM, Decreased circulating IgG level, Hypocalce... OMIM:612301
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia ORPHA:319218
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase concentration, Sple... ORPHA:99827
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Vici Syndrome
Decreased circulating IgG level, Elevated circulating creatine kinase concentration, Decreased ci... OMIM:242840
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Hyperproteinemia, Increased circulating renin level, Hyp... ORPHA:90041
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen... ORPHA:124
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Coccidioidomycosis
Renal insufficiency, Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG ... ORPHA:228123
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Dysuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcin... ORPHA:93598
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con... ORPHA:90363
Cornelia De Lange Syndrome
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Elbow dislo... ORPHA:199
Pallister-Hall Syndrome
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Large for gesta... ORPHA:672
Primary Sclerosing Cholangitis
Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal... ORPHA:171
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... ORPHA:449427
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Brachydactyly OMIM:616589
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Caffey Disease
Increased circulating antibody level ORPHA:1310
Al Amyloidosis
Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Proteinu... ORPHA:85443
Alg12-Cdg
Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza... ORPHA:79324
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Hypertriglyceri... ORPHA:66628
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Increased... ORPHA:37042
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... ORPHA:2879
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, H... OMIM:618278
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Aprosencephaly Syndrome
Hand oligodactyly OMIM:207770
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... OMIM:613070
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper... OMIM:256040
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Papa Syndrome
Proteinuria, Increased circulating antibody level ORPHA:69126
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Cystic Echinococcosis
Eosinophilia, Abscess, Renal cyst, Membranous nephropathy, Increased circulating antibody level, ... ORPHA:400
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ... ORPHA:391487
Mogs-Cdg
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... ORPHA:79330
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Re... OMIM:260920
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, Elbow anky... OMIM:276820
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter ORPHA:3409
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Renal hypoplasia, An... OMIM:620005
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Decreased circulating total IgM, Hypocalcemia, Micropenis, Decreased circulating IgG... OMIM:607143
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephrocalcinosis, Neut... OMIM:260400
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Hydronep... OMIM:251260
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive in infancy, Aplasia/... ORPHA:1225
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Ectrodactyly, ... ORPHA:2273
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... ORPHA:125
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Micropenis, Hypospadias, Microcytic anemia ORPHA:2959
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration ORPHA:90003
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... OMIM:105650
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly OMIM:601357
Gaucher Disease Type 3
Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Increased circulating antibody level,... ORPHA:77261
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Netherton Syndrome
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu... ORPHA:634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuric... ORPHA:79259
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Chronic kidney disease, Elevated ... ORPHA:439232
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Glomerulonephritis, Decreased circulating antibody level,... ORPHA:289390
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, Hypocholester... OMIM:212065
Vici Syndrome
Renal tubular acidosis, Decreased circulating IgG level, Ureteral atresia, Decreased circulating ... ORPHA:1493
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Renal insufficiency, Elevated circulating creatine kinase concentra... ORPHA:99826
Q Fever
Splenomegaly, Hepatosplenomegaly, Hematuria, Anemia, Granuloma, Increased circulating antibody le... ORPHA:781
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Type I... OMIM:606721
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Renal cyst, Abnormal spleen morphology, Increased circulating antibo... ORPHA:284
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... OMIM:154400
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulointerstitial fibr... OMIM:607944
Igg4-Related Thyroid Disease
Hypocalcemia, Increased circulating IgG4 level ORPHA:64744
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level, Eosinophilia, Elevated circula... ORPHA:449563
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Anemi... OMIM:615846
Poems Syndrome
Thrombocytosis, Polycythemia, Increased circulating antibody level ORPHA:2905
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Riddle Syndrome
Elevated circulating alpha-fetoprotein concentration, Enuresis nocturna, Decreased circulating to... ORPHA:420741
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Hypoplasia of the radiu... OMIM:122470
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Scleromyxedema
Paraproteinemia, Elevated circulating creatine kinase concentration ORPHA:167635
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Hypoplasia of penis, Abnormal hemoglobin, Anemia ORPHA:847
Encephalitis Lethargica
Increased circulating antibody level, Urinary incontinence ORPHA:83600
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Increased circulating IgE level OMIM:615508
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h... OMIM:301040
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Postinfectious Vasculitis
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... ORPHA:48435
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Decreased circ... ORPHA:369837
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... ORPHA:183675
Steinert Myotonic Dystrophy
Hypercholesterolemia, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:273
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Eisenmenger Syndrome
Brain abscess, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoch... ORPHA:97214
Gaucher Disease
Pancytopenia, Proteinuria, Elevated circulating C-reactive protein concentration, Splenomegaly, A... ORPHA:355
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Focal Dermal Hypoplasia
Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa... OMIM:305600
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Acute lymphoblastic leukemia, Hypocholesterolemia, Decreased circul... OMIM:223370
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Hypercalciuria, Increased circulati... OMIM:181000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Decreased circulating total IgM, B lymphocytopenia, Micropenis, Hydrone... ORPHA:83617
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Viss Syndrome
Increased circulating IgE level, Hypereosinophilia, Increased circulating IgG level, Hydronephros... OMIM:619472
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Congenital Fibrosis Of Extraocular Muscles
Hand oligodactyly ORPHA:45358
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:268300
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Trichinellosis
Increased circulating IgE level ORPHA:863
Cysticercosis
Increased circulating antibody level ORPHA:1560
Charge Syndrome
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Absent radius, S... OMIM:214800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency, Unilateral renal agenesis, Horseshoe k... ORPHA:500150

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 Usp12

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 Usp12.

No publications found that use IMPC mice or data for Usp12.

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
Usp12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Usp12tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Usp12tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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