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Gene: Cmah MGI:103227

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

cytidine monophospho-N-acetylneuraminic acid hydroxylase

Synonyms:

CMP-NeuAc hydroxylase

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Cmah 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.

Human diseases associated with Cmah (0 diseases)
Human diseases predicted to be associated with Cmah (384 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Deafness, Autosomal Dominant 85	Cochlear nerve hypoplasia, Sensorineural hearing impairment	OMIM:620227
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Shuffling gait, Prelingual sensorineural hearing impairment, Global...	ORPHA:52368
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se...	ORPHA:206594
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Attention deficit hyperactivity disorde...	OMIM:300310
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Increased circulating IgG level, Recurrent otitis media	OMIM:618982
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Cerebellar atrophy, Decreased circulating IgA level, Protruding ...	OMIM:300861
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Increased circulating IgE level, Recurrent otitis media, Decreas...	OMIM:618944
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Cerebellar atrophy, Cerebral atrophy	OMIM:618973
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Recurrent otitis media, Decreas...	ORPHA:98813
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level	OMIM:242870
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Sensorineural hearing impairment	OMIM:221700
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Agammag...	OMIM:613502
Immunodeficiency 18	Recurrent otitis media, Abnormal circulating IgG level, Defective T cell proliferation, Decreased...	OMIM:615615
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Usher Syndrome Type 1	Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub...	ORPHA:231169
Deafness, X-Linked 5, With Peripheral Neuropathy	Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Distal se...	OMIM:300614
7Q31 Microdeletion Syndrome	Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge...	ORPHA:251061
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec...	OMIM:618534
Usher Syndrome Type 3	Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, Ataxia	ORPHA:231183
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,...	OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Increased circulating IgG level	OMIM:618495
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Impaired T cell function, Recurrent otitis media, Decreased circ...	OMIM:240500
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Ataxia, Abnormality of t...	ORPHA:705
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:613494
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Agammag...	OMIM:612692
Tick-Borne Encephalitis	Somatic sensory dysfunction, Hearing impairment, Vertigo, Anorexia, Abnormal circulating cytokine...	ORPHA:297
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:601859
Riddle Syndrome	Decreased circulating IgG level, Ataxia	OMIM:611943
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Otitis media	OMIM:312863
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level, Anorexia	OMIM:209950
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Decreased T cell activation, Decreased CD69 upregulation upon TCR activat...	OMIM:300853
Immunodeficiency 23	Conductive hearing impairment, Somatic sensory dysfunction, Increased circulating IgE level, Sens...	OMIM:615816
Immunodeficiency 10	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Increas...	OMIM:612783
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Recurrent otitis media, Abnormality of humoral immunity, Lack of...	ORPHA:277
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Impaired T cell function, Recurrent otitis media, Decreased circ...	OMIM:607594
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment, Ataxia	OMIM:271250
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:619707
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia	ORPHA:3233
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Low-set ears, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circula...	OMIM:614069
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c...	OMIM:300400
Proteasome-Associated Autoinflammatory Syndrome 2	Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level	OMIM:618048
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio...	OMIM:609136
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea...	OMIM:303110
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori...	OMIM:611584
Immunodeficiency 62	Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,...	OMIM:618459
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:620282
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre...	ORPHA:169154
Angiostrongyliasis	Hyperesthesia, Paresthesia, Increased circulating specific IgE antibody, Increased circulating Ig...	ORPHA:74
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell...	OMIM:617241
Pgm3-Cdg	Bone marrow hypocellularity, Conductive hearing impairment, Mild neurosensory hearing impairment,...	ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Otiti...	ORPHA:169160
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
Apert Syndrome	Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur...	ORPHA:87
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:603909
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Increased circulating IgM level, Hearing impairment, Decreased circulatin...	ORPHA:397596
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul...	OMIM:615513
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity	OMIM:607624
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Chorea, Limb ataxia, Gait ataxia, ...	OMIM:606002
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Dystonia, Increased circulating Interferon-alpha concentration, Tremor	OMIM:615010
Immunodeficiency 96	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti...	OMIM:619774
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Immunodeficiency 11A	Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife...	OMIM:615206
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Incomplete partitio...	OMIM:113650
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level	OMIM:615767
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal...	ORPHA:96148
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function	OMIM:267500
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Increased circulating IgG level, Recurrent otitis media, Decreas...	OMIM:243700
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:276
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Cochlear degeneration, Difficulty walking, Impaired vibration ...	ORPHA:95433
Opticocochleodentate Degeneration	Optic atrophy, Hearing impairment, Cochlear degeneration	OMIM:258700
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Recurrent otitis media	OMIM:618523
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Caffey Disease	Hyperesthesia, Increased circulating antibody level	ORPHA:1310
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency 115 With Autoinflammation	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:620632
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Tremor, Increased circulating antibody level	ORPHA:99965
Spastic Tetraplegia And Axial Hypotonia, Progressive	Low-set ears, Ataxia, Cerebellar atrophy, Exaggerated startle response, Posteriorly rotated ears	OMIM:618598
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:619281
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cerebral atrophy, Neurodegeneration, Chor...	ORPHA:309246
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Abnormality of humoral immunity, Lack ...	ORPHA:572
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level, Neurodegeneration	OMIM:620210
Immunodeficiency 102	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir...	OMIM:301082
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Increased circulating antibody level, Decreased circulating complement C4...	OMIM:615559
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy	OMIM:183350
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Self-injurious behavior, Profound sensorineural hearing impairmen...	OMIM:620469
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615577
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Spontaneous pain sensation, Paraproteinemia, Reduced cir...	ORPHA:91139
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, Chronic otitis media	ORPHA:217390
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Brain atrophy, Hearing impairment, Exaggerated startle response	OMIM:620114
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Immunodeficiency 112	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620449
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Decreased circulating IgG level, Cerebellar atrophy, Cerebral at...	OMIM:620603
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion...	ORPHA:540
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Vici Syndrome	Cerebral cortical atrophy, Decreased circulating IgG level, Optic atrophy, Decreased circulating ...	ORPHA:1493
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Cerebral cortical atrophy, Inability to walk, Chorea, Exaggerated startle response, Macrotia, Opt...	OMIM:617864
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Decreased circulating IgG level, Broad-based gait, Agammaglobuli...	OMIM:619705
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove...	ORPHA:50815
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Otitis externa	OMIM:614328
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin...	ORPHA:3261
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Otitis media	ORPHA:275
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Abnormality ...	OMIM:613179
Rift Valley Fever	Vertigo, Increased circulating IgG level, Increased circulating IgM level, Anorexia	ORPHA:319251
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Gorham-Stout Disease	Abnormality of the internal auditory canal, Hearing impairment, Torticollis	ORPHA:73
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Cerebral atrophy, Increased circulating IgE level, Decreased T cell activation, Defective T cell ...	OMIM:618213
Kimura Disease	Increased circulating IgE level	ORPHA:482
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Aplasia/Hypoplasia of the earlobes, Overfolded helix	ORPHA:3409
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level	OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu...	OMIM:308240
Tularemia	Otitis media, Increased circulating antibody level	ORPHA:3392
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:618394
Lassa Fever	Increased circulating IgM level, Dysphagia, Hearing impairment	ORPHA:99824
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level	OMIM:212050
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re...	OMIM:616881
Immunodeficiency 43	Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp...	OMIM:241600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Decreased lymphocyte proliferation in response to anti-CD3, Panhypogammaglobuli...	OMIM:600802
Xq21 Microdeletion Syndrome	Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis...	ORPHA:1435
Noonan Syndrome	Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai...	ORPHA:648
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Crouzon Syndrome	Narrow internal auditory canal, Optic atrophy, Conductive hearing impairment, Hearing impairment	ORPHA:207
Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Decreased circulating IgG level, Cupped ear, Decreased circulating IgA level, Frequ...	OMIM:617062
Bor Syndrome	Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can...	ORPHA:107
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Exaggerated s...	ORPHA:320406
Multiple Myeloma	Increased circulating IgG level, Paresthesia, Increased circulating IgA level, Decreased circulat...	ORPHA:29073
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hearing impairment, Low-set, posteriorly rotat...	ORPHA:138
Zika Virus Disease	Abnormal optic disc morphology, Increased circulating IgM level, Transient hearing impairment	ORPHA:448237
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 6 concentration, Decreased circulating complement C3 concentrat...	OMIM:620514
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Cerebellar atrophy, Hearing impairment, Tremor, Exaggerated startle re...	OMIM:620327
Tay-Sachs Disease	Optic atrophy, Global brain atrophy, Cerebellar atrophy, Hearing impairment, Laryngeal dystonia, ...	ORPHA:845
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre...	ORPHA:221139
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Recurrent otitis media, Decreased circulating IgA level	OMIM:618282
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619510
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, Exaggerated startle response, Dystonia, Abnormal pinna morphology	ORPHA:438216
Mogs-Cdg	Decreased circulating IgG level, Optic atrophy, Decreased circulating IgA level, Sensorineural he...	ORPHA:79330
Igg4-Related Pachymeningitis	Abnormality of cervical plexus, Somatic sensory dysfunction, Increased circulating IgG4 level, Re...	ORPHA:449427
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Decreased circulating IgA level, Increased circulating IgM level	OMIM:242860
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619752
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Recu...	OMIM:618986
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Exaggerated startle respo...	OMIM:618056
Trichothiodystrophy 3, Photosensitive	Low-set ears, Increased circulating IgA level, Hearing impairment	OMIM:616395
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Inability to walk, Decreased c...	OMIM:208900
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ...	ORPHA:35078
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Decreas...	OMIM:619802
Immunodeficiency 9	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:612782
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level	OMIM:226990
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Promi...	ORPHA:79329
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Decreased circulating IgA level, Sensorineural hearing impairmen...	OMIM:607143
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Decreased specific anti-polysaccharide antibody level, Cerebellar atrophy, Cerebra...	OMIM:614576
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Leishmaniasis	Anorexia, Increased circulating antibody level	ORPHA:507
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:620532
Combined Oxidative Phosphorylation Deficiency 58	Low-set ears, Ataxia, Optic atrophy, Cerebellar atrophy, Difficulty walking, Gait ataxia, Exagger...	OMIM:620451
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Panhypogammaglobulinemia, Abnormal circulating interleukin concentration, Abnormal circulating in...	ORPHA:79124
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:542323
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:331206
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Global brain atrophy	ORPHA:363558
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:301081
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Hearing impairment, Recurrent otitis media, Decreased circulatin...	OMIM:300755
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Cerebellar atrophy, Decreased circulating IgA level, Dysmetria, ...	OMIM:212065
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb tremor, Torticollis, Exag...	OMIM:608643
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu...	OMIM:618131
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Recurrent otitis media	OMIM:301078
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Impaired T cell function, Ataxia	OMIM:201100
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Optic disc pallor, Optic atrophy, Exaggerated startle response	OMIM:609541
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Hyperactivity, Macrotia, Exaggerated startle response	OMIM:617281
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:158061
Mhc Class Ii Deficiency 1	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Saethre-Chotzen Syndrome	Low-set ears, Blepharospasm, Optic atrophy, Conductive hearing impairment, Hearing impairment, Pr...	ORPHA:794
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:275350
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level, Hearing impairment	ORPHA:228123
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Neurodegeneration, Chorea, Exaggerated startle response, Dystonia	OMIM:272750
Glycine Encephalopathy With Normal Serum Glycine	Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response	OMIM:617301
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Decreas...	OMIM:614700
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Exaggerated s...	ORPHA:521426
Riddle Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Otitis media, Gait disturbance,...	ORPHA:420741
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Otitis media, Panhypogammaglobulinemia	OMIM:602450
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration	ORPHA:85435
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Dysphagia	ORPHA:64744
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level	OMIM:616005
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration	ORPHA:158057
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615758
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Impaired T cell function	ORPHA:30
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Increased circulating IgG level, Increas...	ORPHA:2298
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Ataxia	ORPHA:343
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Optic atrophy, Low-set, posteriorly rotated ears, Transient hypo...	ORPHA:3132
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Exaggerated startle response	ORPHA:3198
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Acute Lung Injury	Increased circulating interleukin 6 concentration, Addictive alcohol use, Abnormal circulating cy...	ORPHA:178320
Japanese Encephalitis	Pill-rolling tremor, Decreased motor nerve conduction velocity, Tremor, Increased circulating ant...	ORPHA:79139
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Gm1 Gangliosidosis Type 1	Low-set ears, Hearing impairment, Diffuse cerebral atrophy, Exaggerated startle response, Macrotia	ORPHA:79255
Igg4-Related Kidney Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449395
Obesity Due To Congenital Leptin Deficiency	Orthostatic hypotension due to autonomic dysfunction, Decreased T cell activation, Polyphagia	ORPHA:66628
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Optic atrophy, Cerebral cortical atrophy, Dysphagia, Exaggerated startle response, ...	OMIM:617527
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Chronic otitis media	ORPHA:2314
Obesity Due To Leptin Receptor Gene Deficiency	Orthostatic hypotension due to autonomic dysfunction, Decreased T cell activation, Polyphagia	ORPHA:179494
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Vici Syndrome	Low-set ears, Decreased circulating IgG level, Cutaneous anergy, Decreased circulating IgG2 level...	OMIM:242840
Asparagine Synthetase Deficiency	Global brain atrophy, Tremor, Simple ear, Caudate atrophy, Exaggerated startle response, Macrotia...	OMIM:615574
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Sensorineural hearing i...	OMIM:300972
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration	ORPHA:85410
Charge Syndrome	Low-set ears, Cupped ear, Aplasia of the semicircular canal, Self-mutilation, Sensorineural heari...	OMIM:214800
Brucellosis	Anorexia, Chorea, Abnormality of the peripheral nervous system, Increased circulating IgG level, ...	ORPHA:1304
Prolidase Deficiency	Increased circulating antibody level	OMIM:170100
Trichothiodystrophy 1, Photosensitive	Protruding ear, Decreased circulating IgG level, Macrotia	OMIM:601675
Sandhoff Disease	Impaired temperature sensation, Orthostatic hypotension, Exaggerated startle response, Ataxia	OMIM:268800
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Tremor	ORPHA:69665
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration	ORPHA:319552
Developmental And Epileptic Encephalopathy 68	Cerebral cortical atrophy, Exaggerated startle response	OMIM:618201
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration	ORPHA:101096
Trichinellosis	Increased circulating IgE level, Vertigo, Tinnitus, Facial palsy, Dysphagia	ORPHA:863
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Encephalitis Lethargica	Tremor, Increased circulating antibody level	ORPHA:83600
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Crimean-Congo Hemorrhagic Fever	Vertigo, Anorexia, Increased circulating IgG level, Increased circulating IgM level, Agitation	ORPHA:99827
Pneumocystosis	Increased circulating antibody level	ORPHA:723
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ...	OMIM:301000
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:210900
Dubowitz Syndrome	Low-set ears, Decreased circulating IgG level, Decreased circulating IgA level, Otitis media, Pro...	OMIM:223370
Distal Renal Tubular Acidosis	Enlarged vestibular aqueduct, Polydipsia, Sensorineural hearing impairment	ORPHA:18
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Ebola Hemorrhagic Fever	Dysphagia, Increased circulating antibody level	ORPHA:319218
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Optic nerve compression, Increased circulating IgA level, Incre...	ORPHA:79078
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Hyper-Igd Syndrome	Vertigo, Optic disc pallor, Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Chronic otitis media, Oligoclonal T ce...	ORPHA:83471
Alveolar Echinococcosis	Vertigo, Increased circulating antibody level, Ataxia	ORPHA:284
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent otitis...	ORPHA:183675
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Optic atrophy, Decreased circulating IgA level, Optic nerve comp...	OMIM:612301
Velocardiofacial Syndrome	Aggressive behavior, Abnormality of the ear, Impaired T cell function	OMIM:192430
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Schimke Immuno-Osseous Dysplasia	Abnormal lymphocyte physiology, Bone marrow hypocellularity, Impaired T cell function	ORPHA:1830
Progeroid Short Stature With Pigmented Nevi	High-frequency hearing impairment, Impaired T cell function, Sensorineural hearing impairment	OMIM:176690
Isotretinoin-Like Syndrome	Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se...	ORPHA:2306
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Increased circulating IgM level	OMIM:617099
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Exaggerated startle response	ORPHA:309155
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Poems Syndrome	Hyperesthesia, Papilledema, Paresthesia, Increased circulating antibody level	ORPHA:2905
Multiple Mitochondrial Dysfunctions Syndrome 7	Agitation, Hyperactivity, Exaggerated startle response, Dystonia, Impulsivity	OMIM:620423
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Otitis media, Decreased circula...	ORPHA:125
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Abnormal fifth cranial nerve morphology, Increased circulating I...	ORPHA:449563
Al Amyloidosis	Postural hypotension with compensatory tachycardia, Increased circulating antibody level, Abnorma...	ORPHA:85443
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level, Somatic sensory...	ORPHA:1560
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Increased circulating IgG level, Papilledema, Increased circulating antibody level	ORPHA:91500
Sweet Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:3243
Cardiospondylocarpofacial Syndrome	Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi...	OMIM:157800
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Viss Syndrome	Low-set ears, Cupped ear, Increased circulating IgE level, Exostosis of the external auditory can...	OMIM:619472
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma concentra...	OMIM:301220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve...	OMIM:102700
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circula...	OMIM:620005
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Optic atrophy, Inability to walk, I...	ORPHA:505248
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology, Progressive sensorineural hearing impairment	ORPHA:2237
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Duane Retraction Syndrome	Blepharospasm, Hearing impairment, Narrow internal auditory canal, Stenosis of the external audit...	ORPHA:233
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Gaucher Disease Type 3	Gait disturbance, Increased circulating antibody level, Ataxia	ORPHA:77261
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Sarcoidosis, Susceptibility To, 1	Anorexia, Abnormality of T cell physiology, Optic neuropathy, Increased circulating antibody level	OMIM:181000
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level	OMIM:617591
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Gaucher Disease Type 1	Anorexia, Increased circulating antibody level	ORPHA:77259
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity	OMIM:242700
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,...	ORPHA:798
Orotic Aciduria	Impaired T cell function	OMIM:258900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Exaggerated startle response	OMIM:253800
Gaucher Disease	Hearing impairment, Tremor, Increased circulating antibody level, Polyclonal elevation of IgM, At...	ORPHA:355
Autoinflammatory Disease, Systemic, With Vasculitis	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:620376
22Q11.2 Deletion Syndrome	Low-set ears, Small earlobe, Optic atrophy, Conductive hearing impairment, Hearing impairment, Im...	ORPHA:567
Q Fever	Anorexia, Cryoglobulinemia, Increased circulating antibody level	ORPHA:781
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Recur...	OMIM:619381
Norrie Disease	Self-injurious behavior, Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Sen...	ORPHA:649
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Dystonia, Brain atrophy	OMIM:618278
Postinfectious Vasculitis	Abnormality of humoral immunity, Increased circulating antibody level, Increased circulating IgA ...	ORPHA:48435
Treacher-Collins Syndrome	Blepharospasm, Conductive hearing impairment, Narrow internal auditory canal, Abnormality of the ...	ORPHA:861
Primary Sjögren Syndrome	Somatic sensory dysfunction, Reduced circulating complement concentration, Chorea, Decreased circ...	ORPHA:289390
Aicardi-Goutieres Syndrome 7	Dystonia, Cerebellar atrophy, Cerebral atrophy, Increased circulating antibody level	OMIM:615846
Floating-Harbor Syndrome	Low-set ears, Abnormal temper tantrums, Broad-based gait, Conductive hearing impairment, Impulsiv...	ORPHA:2044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Posteriorly rotated ears, Attention deficit hyperactivity disorder, Dysphagia, Exag...	OMIM:619522
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Decreased circulating IgG level, Optic atrophy, Global brain atrophy, Hearing impai...	ORPHA:500150
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Abnormal circulating interferon concentration, Incr...	ORPHA:544482
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Dysphagia, Exaggerated startle response	OMIM:618367
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Reduced circulating complement concentration, Oral aversion, Inc...	ORPHA:470
Digeorge Syndrome	Low-set ears, Impaired T cell function, Recurrent otitis media, Attention deficit hyperactivity d...	OMIM:188400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Inability to walk, Stereotypical hand wringing, Exaggerated startle response, O...	ORPHA:438213
Marburg Hemorrhagic Fever	Anorexia, Aggressive behavior, Dysesthesia, Increased circulating antibody level	ORPHA:99826
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormal circulating interferon-gamma concentration	ORPHA:391487
Proteus Syndrome	Low-set ears, Exostosis of the external auditory canal, Narrow internal auditory canal, Macrotia	ORPHA:744

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 Cmah

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 Cmah.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cmah^{tm34(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cmah^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cmah^{em1(IMPC)Hmgu}	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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