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Gene: Neil2 MGI:2686058

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Gene Summary

Name:
nei like 2 (E. coli)
Synonyms:
NEH2,  LOC382913

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased vertical activity Neil2em1(IMPC)J HOM Early adult 2.27×10-05
hyperactivity Neil2em1(IMPC)J HOM Early adult 8.04×10-05
decreased thigmotaxis Neil2em1(IMPC)J HOM   Early adult 1.29×10-05
decreased blood urea nitrogen level Neil2em1(IMPC)J HOM   Early adult 4.79×10-05
decreased grip strength Neil2em1(IMPC)J HOM   Early adult 9.75×10-06
abnormal behavior Neil2em1(IMPC)J HOM   Early adult 1.10×10-05
decreased circulating calcium level Neil2em1(IMPC)J HOM Early adult 1.52×10-07

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

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

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Forepaw

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Neil2 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 Neil2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu... OMIM:617585
Schizophrenia 15
Hyperactivity OMIM:613950
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Young Syndrome
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... OMIM:279000
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased nasal nitric oxide,... OMIM:612444
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia OMIM:247800
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... OMIM:608971
Immunodeficiency 54
Recurrent respiratory infections, Chromosome breakage, Splenomegaly, Respiratory insufficiency, R... OMIM:609981
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:617243
Immunodeficiency 50
Recurrent respiratory infections, Lymphopenia, Eczema, Neutropenia OMIM:300988
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia... OMIM:616435
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... OMIM:617638
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... OMIM:269840
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... OMIM:607594
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Transcobalamin Deficiency
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pn... OMIM:615518
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Autoimmune Hypoparathyroidism
Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... ORPHA:36913
N Syndrome
Cryptorchidism, Abnormality of chromosome stability, Leukemia OMIM:310465
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Fragile X Syndrome
Sinusitis, Macroorchidism, Folate-dependent fragile site at Xq28, Otitis media, Chronic otitis media ORPHA:908
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections ORPHA:70592
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... OMIM:605724
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... OMIM:266265
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... OMIM:618986
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:618801
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia OMIM:606407
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... OMIM:619126
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... OMIM:613807
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... OMIM:619281
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anorexia, Hypomagnesemia OMIM:175500
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Malar rash OMIM:618097
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis media, Recu... OMIM:613501
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... ORPHA:36238
Microlissencephaly
Pneumonia ORPHA:1083
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infecti... OMIM:301082
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Recurrent respiratory infections, Reduced natural killer cell count, Neutropenia OMIM:615214
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... OMIM:613193
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Dyspnea, Asthma, Chronic pulmonary ... ORPHA:1163
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Reduced natural... OMIM:620133
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Adamantinoma
Hypercalcemia ORPHA:55881
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... OMIM:618459
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... ORPHA:436159
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage OMIM:613390
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... OMIM:300400
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... ORPHA:3392
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymph... OMIM:618108
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... ORPHA:248111
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Neutropenia, Recurrent otitis media, Chronic sin... OMIM:613502
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim... OMIM:614700
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, B lymphocytopenia, Recurrent otitis media, Re... ORPHA:397596
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia OMIM:193670
Pseudohypoparathyroidism Type 1B
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94089
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Asthma, Decreased CD4:CD8 ratio OMIM:607271
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Absent outer dynein arms, Asthma, Bronchiec... OMIM:616037
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism... OMIM:210900
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:614935
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome... ORPHA:169160
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... OMIM:618063
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia, Inappropriate laughter, Difficulty walking OMIM:618476
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio... ORPHA:98818
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Eczema, Cryptorchidis... OMIM:617052
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Fanconi Anemia, Complementation Group S
Chromosome breakage, Anemia OMIM:617883
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Fanconi Anemia, Complementation Group E
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Anemia, Neutropenia, Deficient... OMIM:600901
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Pseudohypoparathyroidism Type 1C
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyp... ORPHA:79444
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a... OMIM:271980
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... OMIM:612387
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Fanconi Anemia, Complementation Group A
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Anemia, Neutropenia, Deficient... OMIM:227650
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Co... OMIM:620197
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... OMIM:242700
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... OMIM:614868
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Ataxia-Telangiectasia
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormal testis morphology... ORPHA:100
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Chron... OMIM:244400
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... ORPHA:1302
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:243700
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... ORPHA:94093
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:85327
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Fanconi Anemia, Complementation Group F
Pneumonia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia,... OMIM:603467
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Icf Syndrome
Recurrent respiratory infections, Abnormality of chromosome stability, Abnormality of neutrophils... ORPHA:2268
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Cholera
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia ORPHA:173
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cou... ORPHA:228119
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability ORPHA:428
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Pseudohypoparathyroidism Type 1A
Calcinosis, Depression, Choreoathetosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalce... ORPHA:79443
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Timothy Syndrome
Hypocalcemia OMIM:601005
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... ORPHA:2688
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Fanconi Anemia, Complementation Group C
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Anemia, Neutropenia, Deficient... OMIM:227645
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Neutropenia OMIM:609053
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Hypophosphatasia
Irritability, Hypercalcemia ORPHA:436
Fanconi Anemia, Complementation Group P
Anemia, Cryptorchidism, Pancytopenia, Chromosomal breakage induced by crosslinking agents OMIM:613951
Ethylene Glycol Poisoning
Ataxia, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia ORPHA:31826
Celiac Disease, Susceptibility To, 1
Ataxia, Hypocalcemia, Depression OMIM:212750
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Fanconi Anemia, Complementation Group N
Aplastic anemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
Rhabdoid Tumor
Irritability, Hypercalcemia ORPHA:69077
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Absent inner a... OMIM:606763
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Fanconi Anemia, Complementation Group R
Anemia, Chromosomal breakage induced by crosslinking agents OMIM:617244
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Recurrent pneumo... OMIM:619644
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Velocardiofacial Syndrome
Emotional lability, Hypocalcemia, Aggressive behavior OMIM:192430
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis OMIM:614069
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... ORPHA:276
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... ORPHA:79126
Hypophosphatasia, Infantile
Irritability, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia OMIM:241500
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Hypocalcemia ORPHA:746
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... OMIM:616100
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compul... ORPHA:476126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, Reduced natural kill... OMIM:242860
Omenn Syndrome
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocy... ORPHA:39041
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne... ORPHA:37042
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte... OMIM:616433
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... ORPHA:100924
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... OMIM:603554
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's... OMIM:619705
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointe... ORPHA:139402
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... OMIM:602450
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Anemia, Neutropenia, Deficient... OMIM:227646
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Osteopetrosis, Autosomal Recessive 5
Irritability, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Conjunctiviti... OMIM:601495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... OMIM:102700
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Recurrent pharyngitis, Myocarditis, Leukocytosis, Splenome... ORPHA:829
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Hyperparathyroidism, Neonatal Severe
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia OMIM:239200
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic lymphatic leu... OMIM:616005
Fanconi Anemia, Complementation Group L
Anemia, Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... ORPHA:449291
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Lig4 Syndrome
Abnormality of chromosome stability, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia ORPHA:99812
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... ORPHA:2357
Pearson Syndrome
Ataxia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Gitelman Syndrome
Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Polydipsia ORPHA:358
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression OMIM:600740
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... OMIM:618131
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Psoriasis 14, Pustular
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis OMIM:614204
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... ORPHA:293173
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Wheezing, Bronchiectasis, Recurrent pneumonia, ... OMIM:300755
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... ORPHA:83471
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis... ORPHA:1304
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Nephritis... ORPHA:2552
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Self-mutilation ORPHA:52503
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... ORPHA:781
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Liver abscess, Neutrophilia, Abnormal lung morphology, Abnormal testis morphology,... ORPHA:54251
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Anorexia, Hyperkalemia, Hyperuricemia ORPHA:199299
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
22Q11.2 Deletion Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder, Depression ORPHA:567
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Skin rash, Pneumonia, Ec... ORPHA:811
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Acute Adrenal Insufficiency
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:95409
Fanconi Anemia, Complementation Group B
Aplastic anemia, Abnormality of chromosome stability, Abnormal lung lobation, Thrombocytopenia OMIM:300514
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... ORPHA:466650
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Restrictiv... OMIM:607944
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno... ORPHA:79124
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Pul... OMIM:612852
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Impulsivity, Hypomagnesemia, Bruxism, Stereotypical body rocking, Falls, Low fr... OMIM:619503
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait OMIM:207800
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Splenomegaly, Chronic otitis media, Thrombocytopenia ORPHA:169090
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Bronc... ORPHA:125
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Pneumonia ORPHA:1867
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Shigellosis
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... ORPHA:810
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Relapsing Fever
Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Cough, Anemia ORPHA:91547
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Abnormality of chromosome s... ORPHA:647
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Difficulty walking, Hypophosphatemia OMIM:277440
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Coccidioidomycosis
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abscess, Eosinophilia, E... ORPHA:228123
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Emotional labi... OMIM:610217
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Addison Disease
Hyponatremia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased circulating renin le... ORPHA:85138
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... ORPHA:1855
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Decreased ... OMIM:619381
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... OMIM:249100
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells OMIM:617099
Meningioma
Progressive pulmonary function impairment, Abnormality on pulmonary function testing, Chromosomal... ORPHA:2495
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Mirage Syndrome
Cryptorchidism, Thrombocytopenia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopen... OMIM:617053
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia ORPHA:249
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Digeorge Syndrome
Hypocalcemia, Attention deficit hyperactivity disorder OMIM:188400
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Leukocytosis... ORPHA:3260
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean ... OMIM:127550
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumo... OMIM:230900
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Skin rash, Pneumonia ORPHA:247691
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Thrombocyto... OMIM:615846
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Charge Syndrome
Hypocalcemia, Self-mutilation, Dysphagia OMIM:214800
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Leukocytosis, Thrombocyt... ORPHA:340
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Arthritis... OMIM:260920
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Glucagonoma
Hypercalcemia, Anorexia, Depression ORPHA:97280
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... ORPHA:354
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia OMIM:268130
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Somatostatinoma
Hypercalcemia, Anorexia ORPHA:97283
Pheochromocytoma
Hypercalcemia OMIM:171300
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Chops Syndrome
Cryptorchidism, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomal... OMIM:616368
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell subset distribution, Arth... ORPHA:221139
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I... ORPHA:68
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... ORPHA:1018
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Osteoarthritis, Leukopenia, Nephritis, Thrombocytopenia ORPHA:2298
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Cryptorchidism, ... ORPHA:84
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Williams Syndrome
Ataxia, Hypercalcemia, Elevated circulating creatine kinase concentration, Dysmetria, Depression,... ORPHA:904
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... OMIM:253200
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Abnormal lung mo... ORPHA:449395
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Depression ORPHA:652
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Cornelia De Lange Syndrome 1
Cryptorchidism, Thrombocytopenia, Pneumonia, Otitis media OMIM:122470
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... ORPHA:79404
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly ORPHA:309282
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St... OMIM:602535
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Pneumonia ORPHA:90790
Degcags Syndrome
Pancytopenia, Pneumonia, Congenital hypoplastic anemia, Cryptorchidism, Asthma, Hepatosplenomegal... OMIM:619488
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Upper airway obstr... ORPHA:581
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Neutrophilia, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Erythema ... ORPHA:99827
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Tay-Sachs Disease
Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Williams-Beuren Syndrome
Hypercalcemia, Obsessive-compulsive trait, Gait imbalance, Attention deficit hyperactivity disorder OMIM:194050
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Ente... ORPHA:707
Sotos Syndrome
Hypercalcemia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:821
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... ORPHA:646
Coffin-Siris Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease ORPHA:444077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Otitis media ORPHA:353281
Sarcoidosis
Hypercalcemia ORPHA:797
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypoplasia of the thymus, Pneumonia, Cryptorchidism OMIM:264090
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med... ORPHA:353277
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Aspiration pneumonia, Anemia ORPHA:438213
Doors Syndrome
Respiratory distress, Thrombocytosis, Aspiration pneumonia ORPHA:79500
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Cryptorchidism OMIM:216340
Pmm2-Cdg
Respiratory distress, Pericarditis, Aspiration pneumonia, Impaired neutrophil chemotaxis, Decreas... ORPHA:79318

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 Neil2

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 Neil2.

No publications found that use IMPC mice or data for Neil2.

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MGI Allele Allele Type Produced
Neil2em1(IMPC)J Exon Deletion Mice

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