Gene Summary

Name:
complement component 1, q subcomponent, alpha polypeptide
Synonyms:
C1q

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
increased circulating chloride level C1qatm1b(EUCOMM)Wtsi HOM Early adult 5.35×10-05
decreased blood urea nitrogen level C1qatm1b(EUCOMM)Wtsi HOM   Early adult 5.44×10-05
decreased circulating glucose level C1qatm1b(EUCOMM)Wtsi HOM Early adult 7.48×10-06
abnormal sleep behavior C1qatm1b(EUCOMM)Wtsi HOM   Early adult 2.23×10-05

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

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

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

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

4 Images

Human diseases caused by C1qa 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.

The table below shows human diseases associated to C1qa by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Recurrent i... OMIM:613652

The table below shows human diseases predicted to be associated to C1qa by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Recurrent i... OMIM:613652
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal... OMIM:613779
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Cerebral atrophy, Bilateral... OMIM:607208
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Autoimmunity, Colitis, Nephrotic syndrome, Minimal change glome... OMIM:617006
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Abnormal cerebral white matter morphology, Myoclonic absence seizure, Myoclonic seizure, Microcep... OMIM:618596
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Antinuclear antibody positivity, Recurrent bacterial infections OMIM:613495
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Developmental And Epileptic Encephalopathy 57
Seizure, Hypoplasia of the corpus callosum, Generalized myoclonic seizure, Atypical absence seizure OMIM:617771
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:617924
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Membranoproliferative glomerulonephritis, Recurrent... ORPHA:329918
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Hematuria, Chronic kidney disease, Recurrent b... OMIM:609814
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia OMIM:247800
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Continuous Spikes And Waves During Sleep
Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, F... ORPHA:725
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Atonic seizure, Bilate... OMIM:618873
Developmental And Epileptic Encephalopathy 19
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal hemiclonic s... OMIM:615744
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Nephrotic syndrome, Pr... OMIM:613913
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Thyroiditis, Recurrent respiratory inf... OMIM:619375
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Synovitis, Abnormal glomerular mesangium morphology, Glomerulonep... ORPHA:567544
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Juvenile Myoclonic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:307
Isolated Focal Cortical Dysplasia
Thick cerebral cortex, Focal-onset seizure, Seizure, Infantile spasms, Abnormal cortical gyration... ORPHA:65683
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atonic seizure, Absence seizure with eyelid myoclonia, Abnormal cerebral white matter morphology,... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Polymicrogyria, Bilateral Perisylvian, X-Linked
Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Complement Component C1R/C1S Deficiency
Recurrent bronchitis, Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Membranoproliferative glomerulonephritis, Recurrent infections, Nephrotic syndrome, Pr... OMIM:608709
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized cerebral atrophy/hypop... ORPHA:36387
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-onset seizur... ORPHA:178469
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Anticardiolipin IgG an... OMIM:615559
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Systemic Lupus Erythematosus
Systemic lupus erythematosus, Pericarditis, Lupus nephritis, Malar rash, Antinuclear antibody pos... OMIM:152700
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si... OMIM:610984
Epilepsy, Progressive Myoclonic, 6
Seizure, Atonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:614018
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Thick co... OMIM:615476
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) sei... OMIM:619157
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Atonic seizure, Eyelid myoclonus, Abnormal lower motor neuron morphology, Seizure, Bilateral toni... ORPHA:2590
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, M... ORPHA:2382
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Generalized tonic seizure, Focal emotional seizure with laugh... ORPHA:208447
Developmental And Epileptic Encephalopathy 6B
Focal-onset seizure, Hypoplastic hippocampus, Myoclonic absence seizure, Bilateral tonic-clonic s... OMIM:619317
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Developmental And Epileptic Encephalopathy 52
Febrile seizure (within the age range of 3 months to 6 years), Atypical absence seizure, Focal he... OMIM:617350
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Seizure, Cerebral dysmyelination, Bilateral tonic-clonic seizure with generalized... ORPHA:101070
Landau-Kleffner Syndrome
Generalized clonic seizure, Non-convulsive status epilepticus without coma, Bilateral tonic-cloni... ORPHA:98818
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam... OMIM:300310
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Crescentic glomerulonephritis, Antinuclear antibody positivity, Arthr... OMIM:616414
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus OMIM:616421
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:254800
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... OMIM:613860
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Uveitis, Reversible renal failure, Glomerulonephritis, Anterior uveitis, Acute tubulo... OMIM:607665
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Polymicrogyria, Bilateral Temporooccipital
Seizure, Polymicrogyria, Status epilepticus, Focal impaired awareness seizure OMIM:612691
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri... OMIM:613501
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Autoimmune hemolytic a... OMIM:608184
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti... ORPHA:275
Glycosylphosphatidylinositol Biosynthesis Defect 1
Seizure, Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Dravet Syndrome
Generalized clonic seizure, Complex febrile seizure, Febrile seizure (within the age range of 3 m... ORPHA:33069
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal-onset seizure, Hypoplasia of the corpus callosum, Bilateral tonic-clonic se... ORPHA:3006
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure, Abnormal periventricular white matter morphology OMIM:618992
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Hypoplasia of the corpus callosum, Generalized-onset seizure, Myoclonic se... OMIM:618677
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:35878
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:619000
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure, Leukoencephalopathy OMIM:618242
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia OMIM:610021
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Epilepsy, Familial Temporal Lobe, 4
Focal sensory seizure with visual features, Focal aware seizure, Focal impaired awareness seizure OMIM:611631
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Bilateral tonic-clo... ORPHA:485350
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-motor (absence) seizure, Seiz... OMIM:271980
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Developmental And Epileptic Encephalopathy 67
Seizure, Generalized non-motor (absence) seizure, Generalized myoclonic seizure OMIM:618141
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Recurrent respiratory infections,... OMIM:613502
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Occipital cortical atrophy, Atonic seizure, Hypoplasia of the corpus c... ORPHA:411986
Intellectual Developmental Disorder, X-Linked 98
Secondary microcephaly, Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Mic... OMIM:300912
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Severe toxoplasmosis, Lymphade... ORPHA:319552
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Bronchiectasis, Recurrent bacterial... OMIM:608957
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:617836
Paroxysmal Exertion-Induced Dyskinesia
Seizure, Generalized non-motor (absence) seizure ORPHA:98811
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Glomerular sclerosis, Dec... ORPHA:93126
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, F... ORPHA:1945
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Generalized tonic seizure, Posterior predominant thick cortex pachygyria... ORPHA:95232
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Recurrent viral infections, Nephrotic syndrome, Coloni... OMIM:618999
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Antineutrophil antibody positivity, Anti-li... ORPHA:2137
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Skin rash, Chronic hepatitis due to cryptosporidium infection, Recurrent fungal... ORPHA:572
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glome... ORPHA:567548
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Autoimmunity, Recurrent otitis media, Recurrent sinusitis, ... OMIM:240500
Familial Focal Epilepsy With Variable Foci
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Polymi... ORPHA:98820
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:911
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t... ORPHA:331235
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Cernunnos-Xlf Deficiency
Autoimmunity, Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Cerebral atrophy, Secondary microcephaly OMIM:613839
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Autoimmune thrombocytopenia, Erythroderma, Severe infection, Glomerulonephritis, Hepatitis, Eczem... OMIM:304790
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Recurrent respiratory infections, Recurrent infection of the ... OMIM:137100
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Seizures, Benign Familial Infantile, 2
Focal-onset seizure, Generalized-onset seizure OMIM:605751
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Anti-thyroid peroxidase antibody positivity, Systemic lupus... ORPHA:49041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczematoid der... ORPHA:37042
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Alport Syndrome 3, Autosomal Dominant
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... OMIM:104200
Myoclonic-Astatic Epilepsy
Atonic seizure, Focal-onset seizure, Simple febrile seizure, Generalized non-motor (absence) seiz... ORPHA:1942
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Sinusitis, Conjunctivitis... OMIM:601495
Mental Retardation, Autosomal Recessive 57
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Seizure, Poly... OMIM:617188
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Cerebral atrophy OMIM:618729
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus OMIM:614250
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Immunodeficiency 23
Allergic rhinitis, Recurrent staphylococcal infections, Recurrent Staphylococcus aureus infection... OMIM:615816
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Hippocampal atrophy, Focal impaire... OMIM:614418
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Syngap1-Related Developmental And Epileptic Encephalopathy
Microcephaly, Eating-induced seizure, Myoclonic absence seizure, Generalized-onset seizure ORPHA:544254
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Eczema, Osteomyelitis, Allergic rhinitis, R... ORPHA:443811
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Corpus callosum atrophy, Atonic seizure, Focal-onset seizure, Cerebral atroph... ORPHA:168491
Lafora Disease
Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizure, Bilateral tonic... ORPHA:501
Focal Cortical Dysplasia, Type Ii
Cortical dysplasia, Focal impaired awareness seizure, Focal cortical dysplasia type II, Hemimegal... OMIM:607341
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Lafora bodies, Generalized non-motor (absence) seizure, Myoclonus... OMIM:254780
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Neu... OMIM:607594
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Nicolaides-Baraitser Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Microcephaly, Epileptic spasm ORPHA:3051
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent bacterial infections, Recu... OMIM:613493
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Myoclonus, Generalized-onset seizure ORPHA:86814
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur... OMIM:209920
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Abnormal cerebral white matter morphology, Typical absence seizure ORPHA:576283
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:617475
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Otitis media, Chronic sinusitis OMIM:300455
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Autoimmunity, Chronic otitis media, Recurrent viral infections, Pneu... ORPHA:169090
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Sinusitis, Myocarditis, My... ORPHA:36234
Benign Familial Neonatal Epilepsy
Generalized tonic seizure, Focal-onset seizure, Status epilepticus, Simple febrile seizure, Focal... ORPHA:1949
Immunodeficiency 36
Autoimmunity, Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections OMIM:616005
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... ORPHA:449395
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, C... ORPHA:98795
Autosomal Recessive Non-Syndromic Intellectual Disability
Absent septum pellucidum, Focal-onset seizure, Hypoplasia of the corpus callosum, Cerebral atroph... ORPHA:88616
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Focal emotional seizure with laughing, Cerebral white matter atrophy, Atonic seizure, Hypoplasia ... ORPHA:79351
Schimke Immuno-Osseous Dysplasia
Focal segmental glomerulosclerosis, Autoimmunity, Nephrotic range proteinuria, Nephropathy, Micro... ORPHA:1830
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Generalized-onset seizure OMIM:613722
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pyoderma, ... OMIM:307200
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections OMIM:608106
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Seizure, Myoclonus, Generalized-onset seizure, Generalized m... OMIM:159950
Hypocomplementemic Urticarial Vasculitis
Skin rash, Hematuria, Autoimmunity, Uveitis, Glomerulopathy, Meningitis, Arthritis, Conjunctiviti... ORPHA:36412
Lissencephaly 2
Thick cerebral cortex, Generalized-onset seizure, Microcephaly, 4-layered lissencephaly, Lissence... OMIM:257320
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Autosomal Dominant Severe Congenital Neutropenia
Antineutrophil antibody positivity, Periodontitis, Recurrent viral infections, Pneumonia, Recurre... ORPHA:486
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Generalized-onset seizure OMIM:602066
X-Linked Non-Syndromic Intellectual Disability
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
Rasmussen Subacute Encephalitis
Generalized tonic seizure, Focal-onset seizure, Generalized convulsive status epilepticus, Focal ... ORPHA:1929
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Status epilepticus, Generalized non-motor (absence) seizure, Seizure, C... ORPHA:96147
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Autoimmune thrombocytopenia, Recurrent upper respiratory trac... OMIM:613179
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Abnormal periventricular white matter morphology, Focal-onset seizure, Abnormal cerebral white ma... ORPHA:395
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic absence seizure, Bilater... ORPHA:64280
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum, Generalized-onset seizure ORPHA:459074
Kohlschutter-Tonz Syndrome-Like
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Seizure, Focal myoclo... OMIM:619229
Systemic Sclerosis
Abnormality of the kidney, Osteomyelitis, Acute kidney injury, Albuminuria, Pericarditis, Anti-ce... ORPHA:90291
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor... ORPHA:457351
Whim Syndrome 1
Recurrent bacterial infections, Bronchiectasis, Recurrent upper respiratory tract infections OMIM:193670
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Corpus callosum atrophy, Focal hyperkinetic seizure, Microcephaly, Diffuse c... ORPHA:77299
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infections OMIM:612783
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Bilateral tonic-clonic seizure... ORPHA:435638
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Antineutrophil antibody positivity, Autoimmune thrombocytopenia, Au... ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Adult Idiopathic Neutropenia
Recurrent fungal infections, Helicobacter pylori infection, Recurrent infections, Recurrent bacte... ORPHA:2688
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Early Infantile Epileptic Encephalopathy
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:1934
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency 33
Disseminated nontuberculous mycobacterial infection, Recurrent bacterial infections OMIM:300636
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, A... ORPHA:331206
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Seizure precipitated by febrile infection, Bilateral ... ORPHA:363558
Lymphatic Filariasis
Epididymitis, Opportunistic bacterial infection, Hematuria, Urethral obstruction, Lymphadenitis, ... ORPHA:2035
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Eczematoid de... OMIM:147060
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Membranoproliferative glomerulonephritis, Renal insufficiency, Chronic kidney disease, Abnormal r... OMIM:137940
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Tonic seizure, Microcephaly OMIM:300260
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Lysinuric Protein Intolerance
Abnormal renal tubule morphology, Renal amyloidosis, Membranous nephropathy, Decreased glomerular... ORPHA:470
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Elevat... OMIM:615160
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Sei... ORPHA:72
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent fungal infections, Chronic oral candidiasis, Autoimmune hemolytic anemia, Thyroiditis, ... OMIM:606367
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Microscopic hematuria, Macroscopic hematuria, Ch... ORPHA:567546
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebral atrophy, Bilateral tonic-clonic seizure, Generalized ... OMIM:615802
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure, Abnormal cerebral white matter morphology ORPHA:363686
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Infantile Convulsions And Choreoathetosis
Experiential epileptic aura, Focal-onset seizure, Seizure, Focal impaired awareness seizure, Comp... ORPHA:31709
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent fungal infections, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent ... OMIM:102700
Cystic Echinococcosis
Invasive parasitic infection, Unusual infection, Membranous nephropathy, Renal cyst ORPHA:400
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Goodpasture Syndrome
Erythrocyte cylindruria, Cylindruria, Anti-myeloperoxidase antibody positivity, Glomerulonephriti... OMIM:233450
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas... OMIM:231100
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Focal emotional seizure with laughing, Fatigable weakness of speech muscles, Atonic seizure, Cere... ORPHA:404454
Immunodeficiency 47
Recurrent bacterial infections OMIM:300972
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria OMIM:161200
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Propionic Acidemia
Hyperammonemia, Hypoglycemia ORPHA:35
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia ORPHA:664
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Aminoaciduria, Recurrent bacterial infections OMIM:603585
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, Focal impaired awareness seizure, Hypoplasia of the frontal lobes ORPHA:163985
Omenn Syndrome
Recurrent fungal infections, Erythroderma, Recurrent viral infections, Pneumonia, Recurrent bacte... OMIM:603554
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Periodontitis, Recurrent bacterial infections, Osteomyelitis... OMIM:116920
Brucellosis
Epididymitis, Endocarditis, Pericarditis, Intrarenal abscess, Arteritis, Hip osteoarthritis, Orch... ORPHA:1304
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pachygyria, Focal-onset seizure, Seizure, Generalized non-motor (absence) seizure, Cerebral edema... ORPHA:258
Glycogen Storage Disease Ib
Enlarged kidney, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, ... OMIM:232220
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Focal-onset seizu... ORPHA:2148
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure, Abnormal size of pituitary gland, Decreased response to ... ORPHA:293978
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Status epilepticus, Cerebral hypoplasia, Generalized-onset seizure ORPHA:564178
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized tonic seizure, Bilateral tonic-clonic seizur... ORPHA:369837
Primary Sjögren Syndrome
Parotitis, Arteritis, Chronic active hepatitis, Thyroiditis, Optic neuritis, Meningitis, Glomerul... ORPHA:289390
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent skin infections, Recurrent bacterial infections OMIM:612840
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Abnormal thalamic MRI signal intensity, Seizure, M... ORPHA:845
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent meningococcal disease OMIM:609536
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Cocaine Intoxication
Hematuria, Acute kidney injury, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Protei... ORPHA:90068
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Acute ... ORPHA:60033
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Stomatitis, Meningitis, Chronic hepatitis, Hepatitis, Recurrent bacterial... OMIM:308230
Kinsship Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Pri... OMIM:619297
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Hypoplasia of the corp... ORPHA:513456
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent urinary tract infections, Recurr... ORPHA:221139
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Hydronephrosis, Recurrent bacterial infections, Sepsis, Recurrent respi... OMIM:612541
Pitt-Hopkins-Like Syndrome 1
Focal-onset seizure, Seizure, Cortical dysplasia, Focal cortical dysplasia, Generalized-onset sei... OMIM:610042
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypochloremia, ... OMIM:241200
Mirage Syndrome
Microphallus, Recurrent urinary tract infections, Patent ductus arteriosus, Aspiration pneumonia,... OMIM:617053
Sickle Cell Anemia
Renal insufficiency, Hematuria, Recurrent bacterial infections OMIM:603903
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Gastrointestinal inflammation, Renal amyloidosis, Abnormal... ORPHA:79408
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia ORPHA:89938
Vici Syndrome
Penile hypospadias, Recurrent fungal infections, Recurrent viral infections, Chronic mucocutaneou... OMIM:242840
Whim Syndrome
Severe periodontitis, Parotitis, Bronchiectasis, Recurrent upper respiratory tract infections, Ly... ORPHA:51636
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Hypoplasia of the ... ORPHA:268261
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micropenis, Recurrent bacterial infections OMIM:241410
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Seizure, Microcephaly, Typical absence seizure, Agenesis of co... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Seizure, Microcephaly, Typical absence seizure, Agenesis of co... ORPHA:352665
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Simple febrile seizure, Typical absence seizure, Bilateral tonic-clonic seizure ORPHA:466950
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Status epilepticus, Generalized non-motor (absence) seizure, Seizure, Microcephaly, Epileptic spasm ORPHA:2636
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, Recurrent a... OMIM:608233
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Chromomycosis
Keratoconjunctivitis sicca, Keratitis, Recurrent bacterial infections ORPHA:182
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Generalized non-mot... ORPHA:500150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Tubulointerstitial fibrosis, Enlarged kidney, Thyroiditis, P... ORPHA:79259
Primary Ciliary Dyskinesia
Bronchiectasis, Recurrent otitis media, Chronic otitis media, Recurrent sinopulmonary infections,... ORPHA:244
Chédiak-Higashi Syndrome
Skin rash, Recurrent streptococcal infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:167
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent infections, Periodontitis, Recurrent systemic pyog... OMIM:214500
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Sotos Syndrome
Cavum septum pellucidum, Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, Bilateral t... ORPHA:821
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyperglycemia, Hyponatremia, Hyperlipidemia, Narcolepsy ORPHA:293987
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Shwachman-Diamond Syndrome
Skin rash, Recurrent viral infections, Pneumonia, Sinusitis, Recurrent bacterial infections, Ecze... ORPHA:811
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Scleritis, Hydroureter, Uveitis, Recurrent respiratory infections, Cheilitis, Conjunctivitis, Ker... ORPHA:2273
Niemann-Pick Disease Type B
Generalized non-motor (absence) seizure ORPHA:77293
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Focal-onset seizure, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Seizure... ORPHA:261537
Mowat-Wilson Syndrome
Focal-onset seizure, Abnormal cerebral white matter morphology, Hypoplasia of the corpus callosum... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal-onset seizure, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Seizure... ORPHA:261552
Alström Syndrome
Dysuria, Recurrent upper respiratory tract infections, Detrusor sphincter dyssynergia, Recurrent ... ORPHA:64
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Recurrent bacterial infections ORPHA:99104
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Recurrent bacterial infections ORPHA:99103
African Trypanosomiasis
Narcolepsy ORPHA:3385
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Septic arthritis, Chronic kidney disease, Fasciitis, ... ORPHA:642

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for C1qa

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to C1qa.