Gene Summary

Name:
phosphatidylinositol-5-phosphate 4-kinase, type II, gamma
Synonyms:
Pip5k2c

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Pip4k2ctm1b(KOMP)Wtsi HOM   Early adult 2.67×10-05
abnormal auditory brainstem response Pip4k2ctm1b(KOMP)Wtsi HOM   Early adult 4.58×10-05
increased fasting circulating glucose level Pip4k2ctm1b(KOMP)Wtsi HOM Early adult 5.89×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.77% (4 of 517)
aorta 0.19% (1 of 522)
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thalamus 0.0%
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.5% (6 of 400)
dorsal root ganglion 2.13% (1 of 47)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
fronto-nasal process 2.17% (1 of 46)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
nose 1.56% (1 of 64)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
spinal cord 1.79% (1 of 56)
tail 0.0%
tail somite group 0.25% (1 of 401)

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

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Sleep Wake

Wake state (bmp file)

11 Images

Adult LacZ

LacZ Images Section

40 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

Images Slit Lamp

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Pip4k2c 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 Pip4k2c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Recurrent skin infections, Erythema n... OMIM:300635
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Panhypogammaglobulinemia, Diarrhea OMIM:269840
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased circulating... OMIM:209950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent upper respiratory tract infect... OMIM:618944
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Increased circulating IgG level, Increased proportion... OMIM:618982
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased... ORPHA:169160
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Pneumonia, Decreased cir... OMIM:300400
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Decreased eosinophil count,... OMIM:619632
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Abnormality of tumor necrosis factor s... ORPHA:158061
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Protracted diarrhea, Autoimmune hemolytic anemia, Decreased proportion of CD4-posit... ORPHA:572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, B lymp... OMIM:601457
Immunodeficiency 8
Hyperactivity OMIM:615401
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Decreased circulating total IgM, Incre... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Recurrent upper respiratory tract infections, Decreased proporti... ORPHA:169154
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Recurrent upper respiratory tract infections, D... OMIM:616100
Idiopathic Achalasia
Decreased prealbumin level, Gastroesophageal reflux, Cough, Dysphagia, Malnutrition, Recurrent as... ORPHA:930
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Recurrent otitis media, Autoimmune hemolytic anemia, Membranous ne... OMIM:615559
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respir... ORPHA:277
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:C... OMIM:300853
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Nephrotic syndrome, Proteinuria, Decre... OMIM:617006
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Asthma, Recurrent sinusitis, Recurrent respiratory infections, Atop... ORPHA:217390
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Ele... OMIM:603909
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Gastrointestinal hemorr... ORPHA:2137
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media, Diarrhea OMIM:608971
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Eczema, Recurrent respiratory infections, Recu... OMIM:300988
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepa... ORPHA:37042
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Th... OMIM:619652
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Cholangitis, Agammaglobulinemia, I... OMIM:209920
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgG, Decreased p... OMIM:618969
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Recurrent upper respiratory tract infections, Hepat... OMIM:613101
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Reduced natural killer cell activ... OMIM:308240
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Arthritis, Agammaglobulinemia, Cough, Bronchiectasis, Neutr... ORPHA:33110
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Bone marrow hypocellularity, Abnormal circulating l... ORPHA:829
Igg4-Related Aortitis
Hypereosinophilia, Asthma, Hydronephrosis, Increased inflammatory response, Increased circulating... ORPHA:449400
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Boutonneuse Fever
Nausea, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapul... ORPHA:83313
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent... OMIM:614034
Complement Component C1R/C1S Deficiency
Recurrent bronchitis, Nephritis, Discoid lupus rash, Complement deficiency, Arthritis OMIM:216950
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, R... ORPHA:444463
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Uveitis, Increased circulating IgG level, Increased circul... OMIM:617388
Ebola Hemorrhagic Fever
Acute pancreatitis, Nausea, Leukopenia, Gastrointestinal hemorrhage, Maculopapular exanthema, Thr... ORPHA:319218
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Decre... OMIM:240500
Igg4-Related Kidney Disease
Decreased serum complement C4, Elevated circulating creatinine concentration, Proteinuria, Hydron... ORPHA:449395
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Arthritis, Agammaglobulinemia, Hypocalcemia, Thrombocytopenia, Ch... ORPHA:47
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG... OMIM:233650
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Leukopenia, Increased circulating IgG level, Thrombocytosis, Increased circulating IgA ... OMIM:615934
Immunodeficiency, Common Variable, 6
Enlarged kidney, Chronic decreased circulating total IgG, Complete or near-complete absence of sp... OMIM:613496
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Pneumonia, Recurrent upper respiratory tract infection... OMIM:600802
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Aspergillosis
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Infectious encephalitis, Cough, Osteomyelitis... ORPHA:1163
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Hypoxemia, Tachypnea, Productive cough... ORPHA:454836
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Recurr... ORPHA:331235
Legionnaires Disease
Proteinuria, Hepatitis, Pancreatitis, Lymphopenia, Diarrhea, Infectious encephalitis, Myocarditis... ORPHA:549
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Hepatic failure, Cholangitis, Chronic diarrhea, Bron... OMIM:615207
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Nasogastric tube feeding in infancy, Respiratory failure requiring assisted ventilation, Respirat... ORPHA:90117
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Hypothyroidism, Uveitis, C... OMIM:614700
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Pneumonia, Thrombocytosis, Pulmonary embolism, Decreased circulating antibody le... OMIM:226300
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Simple Cryoglobulinemia
Viral hepatitis, Gastrointestinal hemorrhage, Mesangial hypercellularity, Proteinuria, Microscopi... ORPHA:91139
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Interface hepatitis, Autoimmune hemolytic anemia, Intestinal atresia, Hypopla... OMIM:243150
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Pulmonary pneumatocele, Recurrent skin infe... OMIM:619752
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Increased circulating ferritin concentration, Leuk... OMIM:613011
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Hypothyroidism, Coombs-positive hemolytic anemia, Autoimmune thrombocytopeni... OMIM:304790
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Cirr... ORPHA:562639
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Enlarged kidney, Leukopenia, Nephrotic syndrome, Bone marrow hypocellularity... OMIM:617303
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circu... OMIM:616098
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Protracted diarrhe... ORPHA:331206
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anorexia, Hepatomegaly, I... ORPHA:507
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Proteinuria, Increased inflammatory response, Acne, Increased circulat... ORPHA:69126
Brucellosis
Nausea, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess, Hypersplenism, Thro... ORPHA:1304
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Tularemia
Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous abscess, Inflammatory abnormality of the eye... ORPHA:3392
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Autoimmune thrombocytopenia, ... OMIM:613179
Thymic Aplasia
Sinusitis, T lymphocytopenia, Recurrent streptococcus pneumoniae infections, Pneumonia, Hypothyro... ORPHA:83471
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Gastrointestinal inflammation, Increased... ORPHA:186
Igg4-Related Pachymeningitis
Eosinophilia, Sinusitis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Elevated cir... ORPHA:449427
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, EEG with generalized epileptiform discharges, Fasting hyperinsulinemia, Hy... ORPHA:35878
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Anemia, Hepatitis, Villous atrophy, Diar... OMIM:619381
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Increased circulating ferritin concentration, Diff... OMIM:616050
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Bacterial Toxic-Shock Syndrome
Nausea, Elevated circulating creatinine concentration, Increased circulating myelocyte count, Tac... ORPHA:36234
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Hepatosplenomegaly, Rect... ORPHA:35078
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangitis, Rheumatoid... ORPHA:183675
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia, Malabsorp... OMIM:152800
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aci... ORPHA:859
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Graft Versus Host Disease
Nausea, Gastrointestinal inflammation, Chronic hepatitis, Maculopapular exanthema, Hyperbilirubin... ORPHA:39812
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Anorexia, Neutropenia, Abnormal intestine morph... OMIM:600351
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Maculopapular exanthema, Anemia, Increased serum ... ORPHA:540
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased proportion of memory B cells, Decreased specific antibody response to protei... ORPHA:70593
Familial Mediterranean Fever
Erysipelas, Renal amyloidosis, Stage 5 chronic kidney disease, Diarrhea, Neutrophilia, Abdominal ... OMIM:249100
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Asthma, Abscess, ... OMIM:615816
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Dec... OMIM:242860
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Chronic oral candidiasis, Hypereosinophilia, Increased circulating IgE level OMIM:212050
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Otitis media, Decreased specific anti-polysaccharide antibody level, Thro... OMIM:600903
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Feeding difficulties, Splenomegaly, Hepatomegaly, Increased circulating antib... OMIM:615846
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Infectiou... ORPHA:292
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Gastrostomy tube feeding in infancy, Episodic vomiting OMIM:618973
Common Variable Immunodeficiency
Emphysema, Gastrointestinal stroma tumor, Restrictive ventilatory defect, Pneumonia, Abnormality ... ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Aplasia of the thymus, Lymphopenia, Dia... OMIM:102700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Anemia, Thrombocytopenia, Diarrhea, Chronic mucocutaneous candidiasis, Cough, Jaund... ORPHA:79124
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Proteinuria, Inflammatory abnormality of the skin... ORPHA:48435
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Decreased res... OMIM:307200
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis OMIM:613783
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, A... OMIM:603554
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Increased circu... ORPHA:139507
Chilblain Lupus
Asthma, Chronic myelomonocytic leukemia, Increased circulating antibody level, Malar rash, Discoi... ORPHA:90280
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Hashimoto thyroidi... ORPHA:275
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Pneumocystosis
Nonproductive cough, Increased circulating lactate dehydrogenase concentration, Respiratory failu... ORPHA:723
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Stage 5 chronic kidney disease, Ab... ORPHA:101330
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hypothyroidism, Recurrent upper respiratory tract infections, ... OMIM:615952
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Chronic diarrhea, Bronchiectasis, Eczema, Recurrent respira... OMIM:618523
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG OMIM:613495
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level, Asthma OMIM:147050
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Increased cir... ORPHA:100024
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Leukocytosis, Leukopenia, Pneumonia, Hypoxemia, Neut... ORPHA:36238
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Bronchiectasis, Recurrent respiratory infection... OMIM:241600
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Arthritis, Ski... ORPHA:37748
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... OMIM:162000
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Pneumonia, Stomatitis, Lymphadenitis, Colit... ORPHA:911
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Hepatic failure, Fat malabsorption, Hepatic steatosis, Cholestasis, Increased circula... ORPHA:79303
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Ele... OMIM:617099
Q Fever
Maculopapular exanthema, Anemia, Hepatitis, Thrombocytopenia, Abnormal pulmonary interstitial mor... ORPHA:781
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Unilateral renal agenesis, Hypohidrosis, Cholestasis, Elevated gamma-glutamyltransf... OMIM:614576
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Autoimmune hemolytic anemia, Villous atrophy, Decreased specific anti-polysacchar... OMIM:606367
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis, A... ORPHA:848
Pediatric Systemic Lupus Erythematosus
Decreased serum complement C4, Increased circulating lactate dehydrogenase concentration, Protein... ORPHA:93552
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:613944
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased circulating IgG level, Decreased circulating total IgM, De... ORPHA:90362
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Hepatosplenomegaly, Nephrotic syndrome, Acute pancreatitis,... OMIM:618935
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B lymphocytopeni... OMIM:619164
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Panhypogammaglobulinemia, Otitis media, ... OMIM:602450
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, C... ORPHA:171
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Immunodeficiency 58
Dysuria, Recurrent aphthous stomatitis, Dysphagia, Esophagitis, Chronic mucocutaneous candidiasis... OMIM:618131
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Giant cell hepatitis, I... OMIM:607765
Immunodeficiency 36
Splenomegaly, Chronic diarrhea, Decreased circulating antibody level, Bronchiectasis, Recurrent r... OMIM:616005
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgG level, Elevated circulating creatinine concentratio... ORPHA:29073
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Increas... OMIM:194380
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Asthma, Chronic diarrhea, Recurrent sinusitis, Chron... OMIM:614379
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
C3 Glomerulopathy
Decreased serum complement C4, Glomerular extracapillary hypercellularity, Nephrotic syndrome, El... ORPHA:329918
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Nephrotic syndrome, Infectious encephalitis, Interstitial pneumonitis, Myocarditis,... ORPHA:139402
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:611182
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Recurrent sinopulmon... OMIM:147060
Cystic Echinococcosis
Elevated gamma-glutamyltransferase level, Pulmonary cyst, Membranous nephropathy, Hyperbilirubine... ORPHA:400
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Leukopenia, Pneumonia, Increased circulating IgG level, Proteinuri... ORPHA:2298
Cyanosis And Hepatic Disease
Hepatitis, Dyspnea OMIM:219400
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Autoimmune hemolytic anemia, Hepatitis, Inflammatory abnor... ORPHA:391487
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Bloody diarrhea, Leukocytosis, Increased circula... OMIM:618213
Inflammatory Pseudotumor Of The Liver
Nausea, Elevated circulating alanine aminotransferase concentration, Increased hepatitis B virus ... ORPHA:90003
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Colitis, Inflammation of the large intestine, Neutropenia, Eczem... OMIM:608809
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Skin rash OMIM:618048
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Trichohepatoenteric Syndrome 2
Decreased serum iron, Colitis, Hepatomegaly, Hepatitis, Villous atrophy, Cirrhosis, Diarrhea OMIM:614602
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Feeding difficulties in infancy, Hypothyroidism, Portal hypertension, Reduced force... OMIM:613385
Primary Sjögren Syndrome
Decreased serum complement C4, Optic neuritis, Biliary cirrhosis, Chronic hepatitis, Decreased pr... ORPHA:289390
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Nephritis, Hemolytic anemia, Malar rash, Pericarditis, Thrombocytopenia, L... OMIM:152700
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Hemolytic-uremic syndrome, Cholestasis,... ORPHA:810
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Nausea, Pancreatitis, Thrombocytopenia, Diarrhea, Increased circulating i... ORPHA:544482
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption, Hepatic failure, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis,... OMIM:214950
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune thrombocytopenia, Tub... ORPHA:227990
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, D... ORPHA:141152
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Nausea, H... ORPHA:542323
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:615577
Ataxia-Telangiectasia
Sinusitis, T lymphocytopenia, Decreased circulating IgG level, Elevated alpha-fetoprotein, Leukem... OMIM:208900
Autoimmune Polyendocrinopathy Type 3
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Hashimoto thyroiditis, Graves di... ORPHA:227982
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract... OMIM:615518
Adult Idiopathic Neutropenia
Monocytosis, Helicobacter pylori infection, Increased circulating IgM level, Recurrent aphthous s... ORPHA:2688
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nephritis, Renal insufficiency ORPHA:3327
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Increased circulati... OMIM:617591
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Nausea, Leukocytosis, Leukopenia, Increased circulating IgG ... ORPHA:297
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Alstrom Syndrome
Recurrent pneumonia, Hepatic steatosis, Hypothyroidism, Asthma, Tubulointerstitial nephritis, Hep... OMIM:203800
Drug-Induced Lupus Erythematosus
Decreased serum complement C4, Hematuria, Increased blood urea nitrogen, Elevated circulating C-r... ORPHA:231111
Fechtner syndrome
Leukocyte inclusion bodies, Hematuria, Proteinuria, Giant platelets, Nephritis, Neutrophil inclus... OMIM:153640
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Lysinuric Protein Intolerance
Oroticaciduria, Increased circulating lactate dehydrogenase concentration, Hepatic failure, Prote... ORPHA:470
Angiostrongyliasis
Nausea, Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Cons... ORPHA:74
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Conjugated hyperbilirubinemia, Jaundice, Giant cell hep... OMIM:613404
Wilson Disease
Glycosuria, Hepatic failure, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciu... OMIM:277900
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatic failure, Protein... ORPHA:99827
Myh9-Related Disease
Proteinuria, Giant platelets, Spontaneous, recurrent epistaxis, Nephritis, Elevated hepatic trans... ORPHA:182050
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease OMIM:161950
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Rift Valley Fever
Uveitis, Increased circulating IgG level, Hematuria, Increased circulating IgM level, Infectious ... ORPHA:319251
Microsporidiosis
Nausea, Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis,... ORPHA:2552
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Intussusception, Celiac disease, Secondary hyperal... ORPHA:90363
Tempi Syndrome
Transudative pleural effusion, Increased circulating IgG level, Hypoxemia, Increased hematocrit, ... ORPHA:284227
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Nausea, Dysphagia, Esophageal furrows, Esophagitis, Esophageal stenosis, Abnormal peristalsis, Fe... ORPHA:411696
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Leukocytosis, Lung abscess, Gastrointestinal dysmotil... ORPHA:67
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG level, Cholangitis, Increased circulating IgG4 level, Abn... ORPHA:449432
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Microlissencephaly
Pneumonia ORPHA:1083
Prolidase Deficiency
Recurrent pneumonia, Asthma, Elevated circulating aspartate aminotransferase concentration, Splen... OMIM:170100
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Adult-Onset Nemaline Myopathy
Paraproteinemia, Feeding difficulties, Mildly elevated creatine kinase, Respiratory insufficiency... ORPHA:171442
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Cough, Bronchie... OMIM:619468
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Chronic diarrhea... OMIM:601495
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Chronic diarrhea, Reduced delayed hypersensit... OMIM:242700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Tubulointerstitial nephritis, Methylmalonic acidemia, Hepatom... OMIM:251000
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality OMIM:239500
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatic failure, Nephrotic syndrome, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Elevated circulating creatine kinase concentration, Giant cell hepa... ORPHA:79095
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Enuresis nocturna, Pneumonia, Restrictive v... ORPHA:420741
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Elevated circulating alanine aminotransferase concentration, Hepatic stea... OMIM:614921
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Recurrent respiratory infections, Decreased circulating total IgM, Decreased circula... ORPHA:2643
Bloom Syndrome
Decreased circulating IgG level, Uveitis, Recurrent urinary tract infections, Otitis media, Bronc... ORPHA:125
Al Amyloidosis
Gastrointestinal hemorrhage, Proteinuria, Pulmonary interstitial high-resolution computed tomogra... ORPHA:85443
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibo... ORPHA:48104
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:608184
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis, Celiac disease, Increased circulating IgE level OMIM:618985
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Gastrointestinal hemorrhage, Hematuria, Proteinuria, S... ORPHA:91138
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Asthma, Erythroderma, Allergic rhinitis, Inte... OMIM:256500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Nausea, Gastrointestinal hemorrhage, Elevated circulating creatinine conc... ORPHA:85450
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level, Abnormal pleura morphology, F... ORPHA:2571
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Hemorrhagic Fever-Renal Syndrome
Nausea, Acute tubulointerstitial nephritis, Elevated circulating creatinine concentration, Protei... ORPHA:340
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Conjugated hyperbilirubinemia, Jaundice, Giant cell hep... OMIM:208085
Coccidioidomycosis
Pleural empyema, Pancreatitis, Skin rash, Cough, Osteomyelitis, Granuloma, Pericarditis, Arthriti... ORPHA:228123
Good Syndrome
Sinusitis, Recurrent skin infections, Cough, Decreased circulating antibody level, Bronchiectasis... ORPHA:169105
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia OMIM:253700
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Decreased liver function, Hepatomegaly, Protein avoidance, Episodic vomiting, ... OMIM:238970
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Recurrent respiratory infections, Decreased circulating total IgM, Decreased circula... OMIM:251190
Sweet Syndrome
Increased circulating interleukin 6 concentration, Sterile abscess, Myositis, Leukocytosis, Abnor... ORPHA:3243
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodontitis, Acute m... ORPHA:486
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Bronchiolitis, Interstitial pneumonitis, Decreased circulating I... OMIM:614878
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Recurrent otitis media, Episcleritis, Epididymitis, Increased serum interferon... OMIM:256040
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, De... ORPHA:811
Igg4-Related Ophthalmic Disease
Eosinophilia, Sinusitis, Cholangitis, Orchitis, Colon cancer, Increased circulating IgG4 level, A... ORPHA:449563
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Burkitt Lymphoma
Increased circulating lactate dehydrogenase concentration, Abnormality of the liver, Gastrointest... ORPHA:543
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... ORPHA:730
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Hepatitis, Hematemesis, Pancreatitis, Fasciitis, Diarrhea, A... ORPHA:73263
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Melioidosis
Pneumonia, Lung abscess, Cutaneous abscess, Parotitis, Prostatitis, Osteoarthritis, Foot osteomye... ORPHA:31202
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Transient neonatal diabetes mellitus, Maternal diabetes, Maturity-onset di... ORPHA:99886
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Beta 2-microglobulinuria, Scleritis, Renal neutrop... ORPHA:91500
Mevalonic Aciduria
Normocytic hypoplastic anemia, Increased circulating lactate dehydrogenase concentration, Hepatos... OMIM:610377
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Schimke Immuno-Osseous Dysplasia
Proteinuria, Anemia, Abdominal distention, Microscopic hematuria, Pancreatitis, Stage 5 chronic k... ORPHA:1830
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Congenital Disorder Of Glycosylation, Type Ia
Feeding difficulties in infancy, Renal cyst, Decreased circulating IgG level, Nephrotic syndrome,... OMIM:212065
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Hematuria, Proteinuria, Biliary tract obstruction, Splenomegaly, Osteoa... ORPHA:77259
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... OMIM:619126
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Hyper-Igd Syndrome
Renal angiomyolipoma, Increased circulating IgD level, Hepatosplenomegaly, Leukocytosis, Lymphade... OMIM:260920
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hashimoto thyroiditis, Constipation... ORPHA:199299
Immunodeficiency 47
Exocrine pancreatic insufficiency, Accessory spleen, Cholestasis, Decreased circulating total IgG... OMIM:300972
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis, Pneumonia ORPHA:319552
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hydronephrosis, Recurrent uri... OMIM:301068
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Reduced xanthine dehydrogenase level, Hyperxanthinem... OMIM:278300
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Igg4-Related Thyroid Disease
Hypothyroidism, Sclerosing cholangitis, Thyrotoxicosis with diffuse goiter, Hashimoto thyroiditis... ORPHA:64744
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis OMIM:274240
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Hypoxemia, Airway obstruction, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Elevated circulating c... ORPHA:79126
Mccune-Albright Syndrome
Pancytopenia, Renal tubular dysfunction, Bone marrow hypocellularity, Cholestasis, Gastroesophage... ORPHA:562
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia OMIM:618856
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Unilateral renal agenesis, Decreased circulating total IgG, Decreased proportion of CD4-positive ... ORPHA:221139
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Gaucher Disease
Pancytopenia, Feeding difficulties in infancy, Hematuria, Proteinuria, Splenomegaly, Osteoarthrit... ORPHA:355
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis, Hypohidrosis