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
increased fasting circulating glucose level Pip4k2ctm1b(KOMP)Wtsi HOM Early adult 5.89×10-09
abnormal auditory brainstem response Pip4k2ctm1b(KOMP)Wtsi HOM   Early adult 4.75×10-05

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Sleep Wake

Wake state (bmp file)

11 Images

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Section

40 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Eye Morphology

Images Slit Lamp

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
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder, EEG with centrotemporal focal spike waves OMIM:245570
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ... OMIM:300635
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Respiratory tract infection, De... OMIM:615897
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly OMIM:269840
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Pulmonary infiltrates, Increased inflammatory re... OMIM:209950
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis, Pulmonary infiltrates, Increased alpha-globulin OMIM:235900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, EEG abnormality, Ataxia, Broad-based gait OMIM:617665
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Immunodeficiency 8
Hyperactivity OMIM:615401
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Recurr... OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Pulmonary infi... OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Idiopathic Achalasia
Wheezing, Malnutrition, Decreased prealbumin level, Dysphagia, Cough, Gastroesophageal reflux, Br... ORPHA:930
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Nasogastric tube feeding, Decreased prealbumin level, Interstitial pneumonitis, Ecz... ORPHA:37042
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent upper respiratory tract infections, Viral hepatitis, Villous atrophy,... OMIM:209920
Avian Influenza
Acute kidney injury, Cough, Pneumonia, Diarrhea, Hypoalbuminemia, Leukopenia, Elevated circulatin... ORPHA:454836
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Malabsorption, Neutropenia, Recurrent res... ORPHA:33110
Adult-Onset Still Disease
Skin rash, Restrictive ventilatory defect, Pleuritis, Pericarditis, Elevated hepatic transaminase... ORPHA:829
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections,... ORPHA:277
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Pneumonia, Anteverted nares, Chronic bronchitis... OMIM:614069
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Abnormal esophagus morphology, Pneumonia, Neutropenia, Abnormal... ORPHA:1163
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity ORPHA:436151
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Increased circulating IgE le... ORPHA:217390
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Increased CD4:CD8 ratio, Impaired lymphocyte trans... OMIM:617006
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibod... OMIM:300853
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Decreas... ORPHA:2442
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Autoimmune Hepatitis
Increased total bilirubin, Inflammation of the large intestine, Acute hepatitis, Cirrhosis, Eleva... ORPHA:2137
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... OMIM:613953
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver OMIM:235550
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Abnormal lung morphology, Chronic otitis media, Chr... ORPHA:47
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Diarrhea, Splenomegaly, Eczema, Otitis media OMIM:608971
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation... OMIM:618108
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Recurrent upper respiratory tract... OMIM:613101
Legionnaires Disease
Hematuria, Pericarditis, Cough, Respiratory insufficiency, Anorexia, Jaundice, Diarrhea, Myocardi... ORPHA:549
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia, ... OMIM:619398
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Abdominal pain, Increased circu... ORPHA:449400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Pancytopenia, ... OMIM:618986
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Elevated hepatic transaminase, Abdominal pain, Nausea... ORPHA:83313
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Increased ci... OMIM:617388
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Complement Component C1R/C1S Deficiency
Recurrent bronchitis, Discoid lupus rash, Complement deficiency, Nephritis, Arthritis OMIM:216950
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Abnormality of mesentery morphology, Pleuritis, Pericarditis, H... ORPHA:449395
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal circulating lipid conc... ORPHA:381
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Tachypnea, Pulmonary fibrosis, Increased circulating IgA leve... OMIM:615934
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... OMIM:600802
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, P... ORPHA:3392
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Acute Lung Injury
Dyspnea, Respiratory distress, Abnormality of serum cytokine level, Pneumonia, Abnormality of tum... ORPHA:178320
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Dysphagia, Cough, Respiratory failure requiring assisted ventilation, Abnormality of the... ORPHA:90117
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Hepatocellular carcino... ORPHA:186
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Pneumonia, Panc... OMIM:614700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Congenital Enterovirus Infection
Skin rash, Respiratory distress, Leukocytosis, Abnormal macrophage morphology, Pleural effusion, ... ORPHA:292
Immunodeficiency, Common Variable, 7
Chronic diarrhea, Recurrent urinary tract infections, Recurrent respiratory infections, Reduced i... OMIM:614699
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis OMIM:613783
Complement Component 4B Deficiency
Decreased serum complement C4b, Chronic active hepatitis OMIM:614379
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Neutropenia, Hypoalbuminemia, Leukopenia, Anemia, Wide nose, Ne... OMIM:617303
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Short nose, Bronchiectasis, Pneumonia, Reduce... OMIM:242860
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eos... ORPHA:331206
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Increased circulating IgM level, Interlobular bil... ORPHA:562639
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Graft Versus Host Disease
Maculopapular exanthema, Pneumonia, Chronic hepatitis, Jaundice, Diarrhea, Vomiting, Myositis, He... ORPHA:39812
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Abdominal pain, Decreased circulating an... OMIM:226300
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Cutaneous abscess, Hepatic lobular inflammation, El... ORPHA:101330
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Proteinuria, Increased circulating antibody level, Myos... ORPHA:69126
Leishmaniasis
Elevated hepatic transaminase, Increased circulating antibody level, Abnormal macrophage morpholo... ORPHA:507
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis OMIM:162000
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinem... OMIM:152800
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Decreased proportion of central memory CD4-po... OMIM:616098
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Igg4-Related Pachymeningitis
Abnormal lung morphology, Dyspnea, Lymphadenitis, Dysphagia, Increased circulating IgG4 level, Co... ORPHA:449427
Brucellosis
Pericarditis, Intrarenal abscess, Pneumonia, Anorexia, Increased circulating IgG level, Elevated ... ORPHA:1304
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Anorexia, Diarrhea, Hypoalbuminemia, Vomiting, Abnormal intestine m... OMIM:600351
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Skin rash, Villous atrophy, Secretory diarrhea, Pan... OMIM:616050
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating... OMIM:616576
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Gastrointestinal stroma tumor, Hemolytic an... ORPHA:1572
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Pneumonia, Abnormal delayed hypersensitivi... OMIM:600903
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Dyspnea, Elevated hepatic transaminase, Interstitial pneumonit... ORPHA:139402
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Respiratory insufficiency, Cholelithiasis, Th... ORPHA:848
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Increased circul... ORPHA:723
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:611182
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Elevated circulating C-reactive protein concentration, Leukopenia, Neutrophilia... ORPHA:36238
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Neutropenia, Maculopapular exanthema, Ab... ORPHA:540
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Bronchiectasi... OMIM:615816
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Diarrhea, Recurrent p... OMIM:613502
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Jaundice, Hypoalbuminemia, Renal insufficiency, Cirrhos... ORPHA:171
Q Fever
Hematuria, Pericarditis, Cryoglobulinemia, Cough, Pneumonia, Maculopapular exanthema, Anorexia, A... ORPHA:781
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Cernunnos-Xlf Deficiency
T lymphocytopenia, Bulbous nose, Decreased circulating antibody level, Lymphopenia, Thrombocytope... ORPHA:169079
Cyanosis And Hepatic Disease
Hepatitis, Dyspnea OMIM:219400
Trichohepatoenteric Syndrome 2
Cirrhosis, Villous atrophy, Colitis, Hepatomegaly, Decreased serum iron, Hepatitis, Diarrhea, Wid... OMIM:614602
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interleukin level, Decreased proportion of memory B cells, Cough, Panhypogammaglob... ORPHA:79124
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia ... OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Diarrhea, Pulmonary arterial hypertension, Eczema, Renal artery sten... ORPHA:391487
Familial Mediterranean Fever
Peritonitis, Pleuritis, Pericarditis, Erysipelas, Diarrhea, Elevated circulating C-reactive prote... OMIM:249100
Chilblain Lupus
Skin rash, Increased circulating antibody level, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Feeding difficulties, Increased circulating antibody level, Thrombocytopenia, ... OMIM:615846
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 43
Hypoproteinemia, Bronchiectasis, Hypoalbuminemia, Decreased circulating IgG level, Recurrent resp... OMIM:241600
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections OMIM:613495
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Recurrent upper and lower respiratory tract infections, Recu... ORPHA:275
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Gastroesophageal reflux, Hashimoto thyroiditis, Choanal atresia, Chronic diarrhea... OMIM:613385
Primary Sjögren Syndrome
Cryoglobulinemia, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Decreased ser... ORPHA:289390
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jon... ORPHA:100024
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level, Rheumatoid arth... ORPHA:227990
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Autoimmune Polyendocrinopathy Type 3
Graves disease, Iridocyclitis, Autoimmune thrombocytopenia, Decreased circulating antibody level,... ORPHA:227982
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Elevated circul... OMIM:604416
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level, Asthma OMIM:147050
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Panhypogammaglobulinemia, Pneumonia, Septic ar... OMIM:307200
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Recurrent urinary tract infecti... OMIM:300755
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Art... ORPHA:37748
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Abdominal pain, Leukocytosis, Panniculitis, Chronic d... OMIM:617099
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Impaired... OMIM:605258
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Chronic diarrhea, Kerati... OMIM:618523
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Pulmonary interstitial lymphocyte infiltra... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephropathy, ... OMIM:613404
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, Pleural effusion, Lymph... OMIM:618935
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Decreased serum complement C4, Discoid lupus rash, Diarrhea, Leukopenia, Vo... ORPHA:93552
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Pn... OMIM:602450
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Abdominal symptom, Eosinophilia, Hepatic cysts, Pulmonar... ORPHA:400
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Colitis, Hepatomegaly, Splenomegaly OMIM:615947
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Uveitis, Reversible renal failure, Cir... OMIM:607665
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Immunodeficiency 58
Seborrheic dermatitis, Cutaneous abscess, Bronchiectasis, Helicobacter pylori infection, Decrease... OMIM:618131
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Ch... OMIM:616005
Wilson Disease
Cirrhosis, Hemolytic anemia, Hyperphosphaturia, Proteinuria, Hypoparathyroidism, Dysphagia, Hepat... OMIM:277900
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Decreased serum co... ORPHA:329918
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Recurrent sinopulmonary infect... OMIM:147060
Congenital Disorder Of Glycosylation, Type It
Dyspnea, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hepatitis, E... OMIM:614921
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Hypohidrosis, Cirrhosis, Hyperechogenic kidneys, Decreased s... OMIM:614576
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Dyspnea, Exertional dyspnea, Alveolar cell carcinoma, Increased circulating antibody l... OMIM:178500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia, Optic disc pallor OMIM:618970
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Insulin-Resistance Syndrome Type B
Skin rash, Hypotriglyceridemia, Decreased serum complement factor B, Biliary cirrhosis, Abnormal ... ORPHA:2298
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Multiple Myeloma
Acute kidney injury, Decreased circulating antibody level, Elevated circulating creatinine concen... ORPHA:29073
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Apnea, Chronic gastritis, Dysphagia, Neutropenia, Colitis, D... OMIM:608809
Shigellosis
Peritonitis, Acute kidney injury, Pneumonia, Abnormal blood ion concentration, Anorexia, Myocardi... ORPHA:810
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Chronic diarrhea, Colitis, Recurrent bronchiolitis, Splenomegaly,... OMIM:619164
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Abdominal pain, Nausea, Elevated circulating alanine aminot... ORPHA:90003
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Absent brainstem auditory ... ORPHA:52368
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent... ORPHA:51636
Sotos Syndrome 3
Hyperactivity OMIM:617169
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Pleuritis, Thrombocytopenia, Lupus nephritis, Malar rash, Leukope... OMIM:152700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephropathy, ... OMIM:208085
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Pleuritis, Acute kidney injury, Pneumonia, Diarrhea, Myocarditis, Vomiting, Decreas... ORPHA:544482
Cryoglobulinemic Vasculitis
Hematuria, Cryoglobulinemia, Gastrointestinal hemorrhage, Proteinuria, Viral hepatitis, Gastroint... ORPHA:91138
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Lymphopenia, Dec... OMIM:615518
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Recurrent bronchitis, Bronchiectasis, Decrea... OMIM:208900
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Recurrent respi... ORPHA:229717
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent sinusitis, Pyloric stenosis, Central adrenal insufficiency, Pso... OMIM:615577
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Episodic vomiting, Hy... OMIM:238970
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Helicobacter pylori infection, Lymph... ORPHA:2688
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia, Asthma OMIM:617638
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Respirator... ORPHA:470
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, E... OMIM:614493
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Increased circulating antibody level, Lymphopenia, Pann... OMIM:617591
Thyrocerebrorenal Syndrome
Thrombocytopenia, Renal insufficiency, Nephritis ORPHA:3327
Tick-Borne Encephalitis
Increased circulating IgM level, Myelitis, Elevated hepatic transaminase, Leukocytosis, Dysphagia... ORPHA:297
Alstrom Syndrome
Recurrent pneumonia, Nephritis, Elevated hepatic transaminase, Chronic active hepatitis, Hepatic ... OMIM:203800
Hyperprolinemia, Type I
EEG abnormality, Ataxia, Hyperactivity OMIM:239500
Adult Acute Respiratory Distress Syndrome
Dyspnea, Abnormal serum interleukin level, Pneumonia, Abnormality of tumor necrosis factor secret... ORPHA:70578
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Fechtner syndrome
Hematuria, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Stage 5 chronic kidney ... OMIM:153640
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Prolidase Deficiency
Recurrent pneumonia, Elevated circulating aspartate aminotransferase concentration, Short nose, I... OMIM:170100
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating IgE level, Increased circulating antibody level, Increased cir... ORPHA:449432
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Amoebiasis Due To Entamoeba Histolytica
Cough, Diarrhea, Hypoalbuminemia, Anemia, Bloody diarrhea, Pleural empyema, Protracted diarrhea, ... ORPHA:67
Melioidosis
Lung abscess, Prostatitis, Respiratory tract infection, Cutaneous abscess, Splenic abscess, Acute... ORPHA:31202
Angiostrongyliasis
Increased circulating IgM level, Projectile vomiting, Abdominal pain, Constipation, Nausea, Gastr... ORPHA:74
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Inc... ORPHA:182050
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Acute kidney injury, Increased serum interferon-gamma level, Abnormality of interleuki... ORPHA:542323
Drug-Induced Lupus Erythematosus
Dyspnea, Increased blood urea nitrogen, Pericarditis, Hematuria, Decreased serum complement C4, T... ORPHA:231111
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Hepatitis, Recurrent respiratory infections, Broad nasal tip ORPHA:363523
Iga Nephropathy, Susceptibility To, 1
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:161950
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal exudate, Vomiting, Allergic rhinitis, Abnormal peristalsis, Nausea, Gastroesophageal r... ORPHA:411696
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Late-Onset Isolated Acth Deficiency
Graves disease, Adrenocorticotropin deficient adrenal insufficiency, Hypoparathyroidism, Abdomina... ORPHA:199299
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibrosis, Enuresis nocturna, Abdom... ORPHA:420741
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia OMIM:618857
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Emphysema, Pyoderma, C... OMIM:242700
Coccidioidomycosis
Peritonitis, Skin rash, Pericarditis, Cough, Pneumonia, Abnormality of the bladder, Increased cir... ORPHA:228123
Adult-Onset Nemaline Myopathy
Feeding difficulties, Mildly elevated creatine kinase, Respiratory insufficiency due to muscle we... ORPHA:171442
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated hepatic transaminase, Elevat... OMIM:614817
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Thrombocytopenia, Vomiting, Hepatomegaly, Tubulointerstitial nephritis, Methylma... OMIM:251000
Mccune-Albright Syndrome
Hypophosphatemia, Renal phosphate wasting, Elevated circulating growth hormone concentration, Inc... ORPHA:562
Zygomycosis
Peritonitis, Pericarditis, Cough, Neutropenia, Ileitis, Melena, Diarrhea, Sinusitis, Myocarditis,... ORPHA:73263
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level, Abnormality of the pulmonary... ORPHA:284227
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Good Syndrome
Dyspnea, Bronchiectasis, Decreased circulating antibody level, Cough, Dysphagia, Recurrent urinar... ORPHA:169105
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Neutropenia, Pneumonia, Maculopapular exanthema, ... ORPHA:228119
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:608184
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Bloom Syndrome
Skin rash, Recurrent urinary tract infections, Pneumonia, Otitis media, Gastroesophageal reflux, ... ORPHA:125
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Pulmonary fibrosis, Decreased proportion of CD4-pos... OMIM:611926
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Macrovesicular hepatic steatosis, Cholesterol gallstones... ORPHA:209902
Al Amyloidosis
Xerostomia, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Anemia, Gastroparesis... ORPHA:85443
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Hypereosinophi... OMIM:256500
Gaucher Disease
Cirrhosis, Hematuria, Pulmonary fibrosis, Abdominal pain, Increased circulating antibody level, D... ORPHA:355
Leptospirosis
Skin rash, Pericarditis, Acute kidney injury, Cough, Cellular urinary casts, Optic neuritis, Anor... ORPHA:509
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Thyroiditis, Increased circulating IgE level, Eczema OMIM:618985
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections OMIM:226990
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Hypona... ORPHA:199296
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Recurrent... OMIM:256040
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
X-Linked Immunoneurologic Disorder
Abnormal pleura morphology, Decreased circulating IgG2 level, Recurrent respiratory infections, F... ORPHA:2571
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Abdominal pain, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Recurr... ORPHA:486
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia OMIM:253700
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Pustule, Increased circulating antibody le... ORPHA:48104
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... OMIM:251190
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Sinusitis, An... ORPHA:811
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachycardia, Abnorm... ORPHA:369873
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Ulcerative colitis, Decreased circulating IgA level, Dec... OMIM:614878
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Leukocytosis, Chr... ORPHA:3243
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Elevated hepatic transaminase, Underdevel... OMIM:610377
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Hematuria, Azotemia, Glomerulonephritis, Glomerular baseme... OMIM:104200
Igg4-Related Ophthalmic Disease
Prostatitis, Abnormality of the sphenoid sinus, Abnormal lung morphology, Increased circulating I... ORPHA:449563
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Decreased circulating antibody level, Lymphopenia, Pleural effusio... ORPHA:90363
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abdominal pain, Decreased proportion of CD4-positive helper T cells,... ORPHA:543
Tracheobronchopathia Osteochondroplastica
Esophagitis, Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Elevated hepatic transaminase, Proteinuria, Hepatic steatosis, Proximal tubulopat... OMIM:212065
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Elevated circulating crea... ORPHA:730
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Nasogastric tube feeding, Decreased specific antibody response to vaccination, Decreased proporti... ORPHA:221139
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Hypothyroidism, Gastrostomy tube feeding in infancy, Choanal atresia, Acu... ORPHA:228426
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Abdominal pain, Leukocytosis, Lymphadenitis, Rena... OMIM:260920
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Falls, Hyperactivity ORPHA:2382
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... OMIM:619126
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Acute Interstitial Pneumonia
Bronchiectasis, Elevated circulating creatinine concentration, Reduced hematocrit, Reticulonodula... ORPHA:79126
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hearing impairment, Dia... ORPHA:99886
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Abnormal serum interleukin level, Pneumonia ORPHA:319552
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Colitis ORPHA:88643
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Elevated circulating creatinine concentration, Reduced hematocrit, Anorexia, Increased... ORPHA:91500
Gaucher Disease Type 1
Cirrhosis, Hematuria, Abdominal pain, Increased circulating antibody level, Pulmonary arterial hy... ORPHA:77259
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis OMIM:274240
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Anal stenosis, Auto... OMIM:251260
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Hyperglycemia, Sensorineural hearing impairment, Type II diabetes mellitus OMIM:520000
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormality of the pinna, Ataxia, Hyperactivity OMIM:300983
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Skin rash, Autoimmune hemolytic anemia, Re... OMIM:619374
Xanthinuria, Type I
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis, Reduced ... OMIM:278300
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Colitis, Leukopenia, Bone marrow hypoc... OMIM:615190
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent bronchitis, Adrenocorticotropin deficient adrenal insufficien... ORPHA:293978
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia OMIM:618856
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Idiopathic Hypereosinophilic Syndrome
Cough, Chronic hepatitis, Pulmonary embolism, Anemia, Neutrophilia, Eczema, Vomiting, Eosinophili... ORPHA:3260
Complement Factor I Deficiency
Pyelonephritis, Decreased serum complement factor B, Recurrent otitis media, Recurrent sinusitis,... OMIM:610984
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Abnormal renal tubule morphology, Steatorrhea, Cholestasis, Neonat... ORPHA:440713
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Nephritis, Pancreatic cysts, Conjugated hyperbilirubinemia, Polycystic liver disease, Respiratory... OMIM:208500
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Chronic diarrhea, Pneumo... ORPHA:39041
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Respiratory distress, Feeding difficulties, Elevated hepatic trans... ORPHA:26793
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Hypsarrhythmia, Multifocal epileptiform dischar... ORPHA:88616
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Elevated hepatic transaminase, Feeding difficulties, Abnormal circulating citr... ORPHA:415
Spondyloenchondrodysplasia
Skin rash, Hematuria, Autoimmune thrombocytopenia, Proteinuria, Autoimmune hemolytic anemia, Hypo... ORPHA:1855
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome