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
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 6.06×10-09
hyperactivity Pip4k2ctm1b(KOMP)Wtsi HOM   Early adult 3.18×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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 Skull Lateral Orientation

9 Images

Adult LacZ

LacZ Images Section

40 Images

Sleep Wake

Wake state (bmp file)

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency 95
Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respir... OMIM:619773
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections OMIM:615206
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobulinemia, Pneumonia,... OMIM:269840
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Anorexia, Hepatosplenomegaly, Diarrhea, Increased circ... OMIM:209950
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Asthma, Reduced circulating interleukin 27 concentration, Elevated circulating C... OMIM:619632
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... OMIM:615615
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced ly... OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... OMIM:300400
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Diarrhea, Recurrent urinary tract... OMIM:618495
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... ORPHA:572
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Arthritis, Panhypogammaglobulinemia... OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Diarrhea, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased cir... ORPHA:276
Immunodeficiency 8
Hyperactivity OMIM:615401
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Eosinophilia, Increased circulating... OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatitis, Decreased circulat... OMIM:243700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, H... OMIM:616100
Idiopathic Achalasia
Gastroesophageal reflux, Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumo... ORPHA:930
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Elevated circulating C-reactive protein concentrati... OMIM:308240
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... OMIM:618394
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Skin rash... OMIM:618048
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Hepatomegal... OMIM:615559
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Recurrent ... ORPHA:277
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Diarrhea, Decreased propo... OMIM:619802
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency 104
Hepatomegaly, Gastroesophageal reflux, Otitis media, Splenomegaly, Eczema, Diarrhea, T lymphocyto... OMIM:608971
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... OMIM:614034
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Skin rash, Decreas... OMIM:619924
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Aplastic anemia,... ORPHA:2442
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, Chronic lung disease, Inflammation of the large intestine, T lymp... OMIM:618108
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Gastrointestinal hemorrhage, Nephrotic syndrome, Splenomegaly, Increased circulatin... OMIM:603909
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, F... ORPHA:2137
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... ORPHA:217390
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent gastroenteritis, Gastritis, Eczema, Decreased prealbumin level, V... ORPHA:37042
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... OMIM:619652
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent ... OMIM:209920
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Decreased circulating IgE, Decreased c... OMIM:308230
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating antibody level, Pneumonia OMIM:614069
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... OMIM:619398
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... OMIM:613101
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow hypocellulari... ORPHA:443811
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent skin infections, Diarrhea, Chronic ... ORPHA:33110
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Diarrhea, Vomiting, ... ORPHA:454836
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Skin rash, Abnormal circulat... ORPHA:829
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Igg4-Related Aortitis
Increased circulating antibody level, Asthma, Elevated circulating C-reactive protein concentrati... ORPHA:449400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Boutonneuse Fever
Skin rash, Abdominal pain, Maculopapular exanthema, Leukopenia, Diarrhea, Increased circulating I... ORPHA:83313
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Decreased circu... OMIM:619510
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... OMIM:613490
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Recurrent bronchitis OMIM:216950
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... ORPHA:444463
Ebola Hemorrhagic Fever
Increased circulating antibody level, Melena, Lymphopenia, Abdominal pain, Maculopapular exanthem... ORPHA:319218
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Hepatomeg... OMIM:617388
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
X-Linked Agammaglobulinemia
Sinusitis, Osteomyelitis, Hypocalcemia, Malabsorption, Skin rash, Chronic otitis media, Arthritis... ORPHA:47
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Pustule, Skin rash, Increased circulating ... OMIM:615934
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Dec... OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Feeding difficulties, Eczema, Hypoplasia of the thymus, Decreased propo... OMIM:617241
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi... OMIM:613496
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Recurrent upper respirat... OMIM:600802
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... ORPHA:1163
Selective Igm Deficiency
Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum... ORPHA:331235
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... OMIM:618987
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Legionnaires Disease
Pancreatitis, Diarrhea, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Bone mar... ORPHA:549
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... OMIM:615207
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Hypersplenism, Uveitis, Bon... ORPHA:3261
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Proteinuria, Gastrointestinal hem... ORPHA:91139
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Jejunal atresia, Recurrent respiratory infections... OMIM:243150
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... OMIM:614700
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormality of the urinary system, Elevated circulating creatine kinase con... ORPHA:90117
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Recurrent ... OMIM:619752
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Elevated circulating C-reactive protein concentration, Diarrhea, Vomiting, B lymphocyt... OMIM:619381
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... OMIM:613011
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Hypoproteinemia, Abdominal pain, Diarrhea, Pulmonary embolism, Vomit... OMIM:226300
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoim... OMIM:304790
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi... ORPHA:562639
Brucellosis
Elevated circulating C-reactive protein concentration, Hepatomegaly, Vomiting, Myocarditis, Epidi... ORPHA:1304
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Neutropenia, Recurrent bronchopulmonary infections, Nephritis, Hepatomegaly... OMIM:617303
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Leukopenia, Abnormal ... ORPHA:507
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... ORPHA:331206
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Primary Biliary Cholangitis
Increased circulating IgA level, Elevated circulating alkaline phosphatase concentration, Abdomin... ORPHA:186
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Acute otitis media, Decreased lymphocyte proliferation in response to mitogen, Lack of T cell fun... ORPHA:35078
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med... ORPHA:3392
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... OMIM:613179
Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis... ORPHA:83471
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Elevated circulating C-reactive protein concentration, Comple... ORPHA:449427
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Pyloric stenosi... ORPHA:381
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discharges, Reactive hypoglycemi... ORPHA:35878
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... OMIM:616005
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Diarrhea, Vomiting, Myocarditis, Elevated circulating creatinine c... ORPHA:36234
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Abnormal renal phys... ORPHA:540
Graft Versus Host Disease
Recurrent gastroenteritis, Elevated circulating alkaline phosphatase concentration, Hemophagocyto... ORPHA:39812
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Lymphangiectasia, Intestinal
Malabsorption, Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia, Neonata... OMIM:152800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low... ORPHA:70593
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Anorexia, Diarrhea, Vomiting, Hypoalbuminemia, ... OMIM:600351
Immunodeficiency 23
Asthma, Lymphopenia, Eczema, Membranoproliferative glomerulonephritis, Abscess, Increased circula... OMIM:615816
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Hepatomegaly, Diarrhea, Vomi... OMIM:249100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Decreased circulating IgA level, Malabsorption, Chronic bronchitis, Diarrhea, T lympho... OMIM:242860
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... ORPHA:2902
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... OMIM:613500
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Sodium-Dependent Multivitamin Transporter Deficiency
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level OMIM:618973
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Diarrhea, Panhypogammaglobulinemia... ORPHA:79124
Congenital Enterovirus Infection
Respiratory distress, Neutropenia, Skin rash, Hyperammonemia, Leukocytosis, Hepatic failure, Leuk... ORPHA:292
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... OMIM:102700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Otitis media, Splenomegaly, Aplasia of the thymus, Recurrent upper res... OMIM:602450
Wiskott-Aldrich Syndrome, Autosomal Dominant
Otitis media, Eczema, Diarrhea, Decreased mean platelet volume, Pneumonia, Abnormal delayed hyper... OMIM:600903
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Pyoderma, Enterovi... OMIM:307200
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Thrombocytopenia, Recurrent sinusitis, ... OMIM:616576
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Complement Component C1S Deficiency
Hepatitis, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Common Variable Immunodeficiency
Anal atresia, Abnormality of the liver, Lymphopenia, Otitis media, Splenomegaly, Gastrointestinal... ORPHA:1572
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Viral hepatitis, Hepa... ORPHA:139507
Chilblain Lupus
Discoid lupus rash, Increased circulating antibody level, Inflammatory abnormality of the skin, A... ORPHA:90280
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Severe B lym... OMIM:603554
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Eosinophilia, Chronic diarrhea, Recurrent otitis media, Bronchiectasis, Increa... OMIM:618523
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Recurrent bacterial skin infections, Porphyrinuria,... ORPHA:101330
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent gastroenteritis, Decreased circulating IgA level, Recurrent upper and lower respiratory... ORPHA:275
Ige Responsiveness, Atopic
Allergic rhinitis, Eczema, Asthma, Increased circulating IgE level OMIM:147050
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... OMIM:615952
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:605258
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections OMIM:613495
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline... ORPHA:79303
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM level, ... ORPHA:37748
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... OMIM:241600
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, ... OMIM:604416
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... OMIM:617099
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... OMIM:162000
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... ORPHA:36238
Q Fever
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, P... ORPHA:781
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria OMIM:314000
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin... OMIM:614576
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... ORPHA:911
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Hypo... OMIM:618213
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... OMIM:619164
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Decreased serum complement C4, Diarrhea, Vomiting, Hematuria, Proteinuria, Mi... ORPHA:93552
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, De... OMIM:606367
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:611182
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Abnor... ORPHA:848
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Eczema, Lymphadenitis, Abscess, H... OMIM:618935
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent ... OMIM:614379
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,... OMIM:607765
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Re... OMIM:615139
Immunodeficiency 15A
Acne inversa, Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased propor... OMIM:618204
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Cholelithiasis, Hepatomegaly, Splenomegaly, Increas... OMIM:194380
Immunodeficiency 58
Eczema, Helicobacter pylori infection, Decreased specific antibody response to vaccination, Colit... OMIM:618131
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Decreased circulating... OMIM:301081
Halothane Hepatitis
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice OMIM:234350
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Hypocalcemia, H... ORPHA:90362
Interstitial Lung Disease 2
Increased circulating antibody level, Alveolar cell carcinoma, Cirrhosis, Cough, Decreased DLCO, ... OMIM:178500
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Nephropathy,... ORPHA:29073
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Lymphocytosis, Acute hepatic failure, Interstitial pneumo... ORPHA:139402
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Eosinophilia, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:147060
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Renovascular hypertens... ORPHA:391487
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Abnormal circulating fatty-acid concentration, Nephritis, Skin r... ORPHA:2298
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Circulating immune complexes, Anterior uveitis, Non-caseating epithelioid cell granul... OMIM:607665
Cystic Echinococcosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Multiple pulmonary cysts, ... ORPHA:400
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis OMIM:219400
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Hypsarrhythmia OMIM:619970
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Apnea, Colitis, Decreased circulating IgG level, Eczema, Diarrhea, Inflammatio... OMIM:608809
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased... ORPHA:90003
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Decreased circulating IgA level, Hepatomegaly, Ga... OMIM:613385
Liver Failure, Infantile, Transient
Hepatomegaly, Decreased circulating IgG level, Hyperbilirubinemia, Microvesicular hepatic steatos... OMIM:613070
Immunodeficiency 17
Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, Anoperineal fistula,... OMIM:615607
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Pleuritis, Lupus nephritis, Malar rash, Peric... OMIM:152700
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C... ORPHA:289390
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... OMIM:214950
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Colitis, Elevated circulati... OMIM:301074
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pa... OMIM:615846
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Lymphopenia, Pyoderma, Aplasia of t... OMIM:242700
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... ORPHA:542323
Isolated Agammaglobulinemia
Sinusitis, Malabsorption, Skin rash, Otitis media, Diarrhea, Abnormal lymphocyte morphology, Arth... ORPHA:229717
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Elevated carcinoembryonic antigen level, Ac... ORPHA:264675
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Urethritis, Abscess, Vomiting, Myocard... ORPHA:810
Infection-Related Hemolytic Uremic Syndrome
Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Myocarditis, Pneumonia, Decreased urine outpu... ORPHA:544482
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Rheumatoid arthritis, Leukopenia, Xerostomia, Autoimmune thrombocytopenia, Abnorma... ORPHA:227990
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Skin rash, Splenomega... OMIM:617591
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level, Recurre... ORPHA:2688
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... OMIM:614493
Immunodeficiency, Common Variable, 10
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Central adrenal insuffi... OMIM:615577
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Feeding difficulties, Aspiration pneumonia, Nasogastric tube feeding in inf... ORPHA:141152
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Graves disease, Rheumatoid arthritis, Leukopenia, Xerostomia, Autoimmune thrombocy... ORPHA:227982
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Wiskott-Aldrich Syndrome
Melena, Eczema, Diarrhea, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin ... OMIM:301000
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Thyrocerebrorenal Syndrome
Renal insufficiency, Thrombocytopenia, Nephritis ORPHA:3327
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepat... ORPHA:470
Rift Valley Fever
Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Hematuria, Elevated he... ORPHA:319251
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Decreased serum i... OMIM:614602
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia OMIM:617113
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Anemia, Dec... ORPHA:231111
Angiostrongyliasis
Increased circulating IgA level, Constipation, Abdominal pain, Projectile vomiting, Increased cir... ORPHA:74
Fechtner syndrome
Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... OMIM:153640
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Anorexia, Leukopenia, Myelit... ORPHA:297
Alstrom Syndrome
Asthma, Chronic active hepatitis, Hepatomegaly, Nephritis, Decreased response to growth hormone s... OMIM:203800
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Eosinophilia, Pneumonia OMIM:617638
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Aminoacidu... OMIM:613404
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Cholestatic liver disease, Renal tubular acidosis, Renal tubular atrophy, I... OMIM:208085
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Whim Syndrome
Sinusitis, Neutropenia, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tra... ORPHA:51636
Myh9-Related Disease
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... ORPHA:182050
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Neutrophilia, Hemoperitoneum, Hepatic failure, Hemothorax, Diarrhea, Hematu... ORPHA:99827
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Abnormality of the ... ORPHA:284227
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Abnormal pancreas morphology, Complement defic... ORPHA:449432
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Reduced vital capacity, Feeding difficulties, Mildly elevated creatine k... ORPHA:171442
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microsporidiosis
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormal... ORPHA:2552
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... ORPHA:411696
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Al Amyloidosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Renal interstitial amyloid... ORPHA:85443
Immunodeficiency 98 With Autoinflammation, X-Linked
Neutropenia, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytosis, Splenom... OMIM:301078
Microlissencephaly
Pneumonia ORPHA:1083
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Decreased lymphocyte proliferation in response to a... OMIM:619313
Prolidase Deficiency
Increased circulating antibody level, Asthma, Hepatomegaly, Splenomegaly, Eczema, Elevated circul... OMIM:170100
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Elevated circulating alkaline phosphatase concentration, Leukocyt... ORPHA:67
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Vomiting, Decreased circulating IgA level, Malabsorption, Intussuscep... ORPHA:90363
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit... ORPHA:79095
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Vom... OMIM:277900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice ORPHA:60
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Brain abscess, Decreased DLCO, Cough, Restrictive ventil... OMIM:610910
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating creatin... OMIM:614921
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Otitis media, E... ORPHA:420741
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
Nephronophthisis-Like Nephropathy 2
Polyuria, Cough, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal in... OMIM:619468
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Netherton Syndrome
Asthma, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villous atrophy, ... OMIM:256500
Coccidioidomycosis
Respiratory distress, Pancreatitis, Abscess, Pneumonia, Pericarditis, Osteomyelitis, Peritonitis,... ORPHA:228123
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Decreased glomerular filtration rate, Diarrhea, Vomiting, Hematuria... ORPHA:340
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenomegaly, Abdominal pain, Cryogl... ORPHA:91138
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Increased circulating IgE level, Celiac disease, Thyroiditis OMIM:618985
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit... ORPHA:85450
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tra... OMIM:608184
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Splenomeg... OMIM:613812
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Decreased circulating IgG2 level, Recurrent respiratory in... ORPHA:2571
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Elevated circulating C-reactive protein concen... OMIM:256040
Ataxia-Telangiectasia
Sinusitis, Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Elevate... OMIM:208900
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Methylmalonic acidu... OMIM:251000
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Peeling Skin Syndrome 1
Asthma, Palmoplantar hyperhidrosis, Eosinophilia, Erythroderma, Increased circulating IgE level OMIM:270300
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diarrhea, Recurrent urinary ... ORPHA:169105
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Plasminogen Deficiency, Type I
Nephrolithiasis, Periodontitis, Nephritis, Recurrent upper respiratory tract infections, Duodenal... OMIM:217090
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hyperornithinemia, Hepatomegaly, Hyperammonemia, Episodic vomiting, Pro... OMIM:238970
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:251190
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm... ORPHA:486
Burkitt Lymphoma
Abdominal pain, Abnormality of the spleen, Abnormality of the pancreas, Increased circulating lac... ORPHA:543
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... ORPHA:811
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Orchitis, Pancreatitis, Elevated circulating C-reactive protei... ORPHA:449563
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity OMIM:239500
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... ORPHA:73263
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... OMIM:612444
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... ORPHA:905
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality of the spleen, Acute inf... ORPHA:31202
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Mevalonic Aciduria
Fluctuating hepatomegaly, Elevated circulating C-reactive protein concentration, Skin rash, Fluct... OMIM:610377
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Panuveitis, Elevated circulating C-reactive protein concentration, D... ORPHA:91500
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Proteinuria, Bo... ORPHA:1830
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... ORPHA:228302
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:300972
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cirrh... ORPHA:77259
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia ORPHA:464370
Hyper-Igd Syndrome
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Neutrophilia, Splenomegaly,... OMIM:260920
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Vomiting, Cholestasis, Bladder exstroph... OMIM:301068
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Immunodeficiency 75
Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurr... OMIM:619126
Lead Poisoning
Renal tubular dysfunction, Asthma, Chronic kidney disease, Abdominal cramps, Constipation, Abdomi... ORPHA:330015
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Celiac disease, Adrenocorticotropic hormone deficiency, Graves disease, Const... ORPHA:199299
Igg4-Related Thyroid Disease
Hypocalcemia, Graves disease, Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating ... ORPHA:64744
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis OMIM:274240
Xanthinuria, Type I
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Reduced xanthine dehydrogenase lev... OMIM:278300
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Lymphadenitis, Abnormal circulating interleukin concentration, Pneumonia ORPHA:319552
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510