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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 (353 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
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ...	OMIM:615897
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Caudate ...	ORPHA:52368
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	ORPHA:206594
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Unsteady gait, Protruding ear, Decreased circulating total IgM, Decre...	OMIM:300861
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Decreased circulating IgG level, Cerebral atrophy	OMIM:618973
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir...	OMIM:618944
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Attention ...	OMIM:300310
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le...	ORPHA:98813
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Deafness, Neural, With Atypical Atopic Dermatitis	Sensorineural hearing impairment, Increased circulating IgE level	OMIM:221700
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Usher Syndrome Type 1	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop...	ORPHA:231169
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ...	OMIM:300614
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media, Decreased circulatin...	OMIM:613502
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:618534
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Otitis media	OMIM:312863
7Q31 Microdeletion Syndrome	Torticollis, Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-...	ORPHA:251061
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231183
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Pendred Syndrome	Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th...	ORPHA:705
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Increased circulating IgG level	OMIM:618495
Immunodeficiency, Common Variable, 2	Impaired T cell function, Recurrent otitis media, Decreased circulating IgG level, Partial absenc...	OMIM:240500
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media, Decreased circulatin...	OMIM:612692
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Tick-Borne Encephalitis	Somatic sensory dysfunction, Facial palsy, Anorexia, Tremor, Vertigo, Abnormal cranial nerve morp...	ORPHA:297
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Agammaglobulinemia 8B, Autosomal Recessive	Partial absence of specific antibody response to tetanus vaccine, Prominent stem of antihelix, Ag...	OMIM:619824
Riddle Syndrome	Decreased circulating IgG level, Ataxia	OMIM:611943
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Decreas...	OMIM:243700
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 specific anti-polysaccharide antib...	OMIM:300853
Immunodeficiency 23	Somatic sensory dysfunction, Ataxia, Sensorineural hearing impairment, Increased circulating IgE ...	OMIM:615816
Immunodeficiency, Common Variable, 1	Impaired T cell function, Decreased circulating total IgM, Recurrent otitis media, Decreased circ...	OMIM:607594
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, Low-set ears, Decreased ci...	OMIM:614069
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Abnormality of humoral immunity, Increased circulating IgE level, Lack of...	ORPHA:277
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level	OMIM:618048
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Immunodeficiency 62	Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:618459
Immunodeficiency 109 With Lymphoproliferation	Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating IgG level, Comp...	OMIM:620282
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:169154
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Angiostrongyliasis	Increased circulating IgA level, Increased circulating specific IgE antibody, Increased circulati...	ORPHA:74
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Apert Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc...	ORPHA:87
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Increased circulating antibody l...	ORPHA:99965
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Anorexia, Increased circulating antibody level, Decreased lymphocyte proliferation in response to...	ORPHA:169160
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Pgm3-Cdg	Mild neurosensory hearing impairment, Ataxia, Increased circulating IgA level, Sensorineural hear...	ORPHA:443811
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Decreased circulating antibody level, Increased circulating IgM level, He...	ORPHA:397596
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell...	OMIM:617241
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity	OMIM:607624
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Cerebellar atrophy, Tremor, Chorea, Impaired distal vi...	OMIM:606002
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Branchiootorenal Syndrome 1	Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch...	OMIM:113650
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Distal Deletion 10Q	Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Unsteady gait, Cochlear...	ORPHA:96148
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function	OMIM:267500
Igg4-Related Aortitis	Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc...	ORPHA:449400
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio...	ORPHA:276
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:618969
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, Decrease...	OMIM:619774
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Caffey Disease	Increased circulating antibody level, Hyperesthesia	ORPHA:1310
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level	OMIM:618523
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Exaggerated startle response, Ataxia, Posteriorly rotated ears, Low-set ears	OMIM:618598
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro...	ORPHA:95433
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgG ...	OMIM:619281
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level, Neurodegeneration	OMIM:620210
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropr...	ORPHA:309246
Immunodeficiency By Defective Expression Of Mhc Class Ii	Acute otitis media, Lack of T cell function, Decreased circulating antibody level, Gait ataxia, A...	ORPHA:572
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy	OMIM:183350
Autoimmune Lymphoproliferative Syndrome, Type Iii	Reduced natural killer cell activity, Absent isohemagglutinin level, Increased circulating antibo...	OMIM:615559
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Roifman Syndrome	Recurrent otitis media, Decreased T cell activation, Hippocampal atrophy, Decreased circulating a...	ORPHA:353298
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Increased ...	ORPHA:91139
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Increased circulating IgE level	ORPHA:217390
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Brain atrophy, Hearing impairment	OMIM:620114
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Noonan Syndrome	Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai...	ORPHA:648
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Impaired T cell function, Tremor, Decreased lymphocyte proliferation in response to mitog...	OMIM:613179
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Decreased circulating total IgM, Decreased circulating IgG level, Decreas...	OMIM:615577
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Vici Syndrome	Decreased circulating IgG level, Sensorineural hearing impairment, Optic atrophy, Decreased circu...	ORPHA:1493
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Broad-based gait, Decreased circulating IgG ...	OMIM:619705
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Inflammatory Skin And Bowel Disease, Neonatal, 1	Otitis externa, Increased circulating IgE level	OMIM:614328
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,...	OMIM:308240
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Macrotia, Cerebr...	OMIM:617864
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Otitis media, Decreased circulating IgA level	ORPHA:275
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Gorham-Stout Disease	Torticollis, Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Kimura Disease	Increased circulating IgE level	ORPHA:482
Urban-Rogers-Meyer Syndrome	Overfolded helix, Aplasia/Hypoplasia of the earlobes, Increased circulating IgE level	ORPHA:3409
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Rift Valley Fever	Increased circulating IgG level, Vertigo, Increased circulating IgM level, Anorexia	ORPHA:319251
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level	OMIM:212050
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Okur-Chung Neurodevelopmental Syndrome	Ataxia, Cupped ear, Decreased circulating antibody level, Frequent temper tantrums, Low-set ears,...	OMIM:617062
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level	OMIM:614470
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Cerebral atrophy, Increased circulating IgG level, Defective T c...	OMIM:618213
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Lassa Fever	Increased circulating IgM level, Dysphagia, Hearing impairment	ORPHA:99824
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Crouzon Syndrome	Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment	ORPHA:207
Tularemia	Increased circulating antibody level, Otitis media	ORPHA:3392
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Charge Syndrome	Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Abnormality of the in...	ORPHA:138
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Cutaneous ane...	OMIM:600802
Zika Virus Disease	Increased circulating IgM level, Transient hearing impairment, Abnormal optic disc morphology	ORPHA:448237
Multiple Myeloma	Increased circulating IgG level, Paresthesia, Increased circulating IgA level, Decreased circulat...	ORPHA:29073
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy, Impaired vibration sensation in t...	ORPHA:320406
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Ataxia, Decreased lymphocyte proliferation in response to anti-CD3, Optic nerve hypoplasia, Decre...	ORPHA:221139
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op...	ORPHA:1435
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Brain atrophy, Cerebral cortical atroph...	OMIM:620327
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Ataxia-Telangiectasia	Ataxia, Tremor, Decreased circulating IgG2 level, Inability to walk, Decreased circulating IgA le...	OMIM:208900
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Igg4-Related Pachymeningitis	Somatic sensory dysfunction, Increased circulating IgG4 level, Abnormality of cervical plexus, Ab...	ORPHA:449427
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Tremor, Inability to walk, Optic atrophy, Dysme...	ORPHA:845
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Low-set ears, Decreased circulating IgA level	OMIM:242860
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Decreased c...	ORPHA:79330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Broad-based gait, Ataxia, External ear malformation, Dystonia	ORPHA:438216
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Low-set ears, Hearing impairment	OMIM:616395
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac...	ORPHA:3261
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata...	OMIM:618056
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level	OMIM:226990
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Acute otitis media, Lack of T cell function, Decreased circulating total ...	ORPHA:35078
Congenital Disorder Of Glycosylation, Type Ig	Abnormal pinna morphology, Sensorineural hearing impairment, Decreased circulating total IgM, Dec...	OMIM:607143
Mgat2-Cdg	Low-set, posteriorly rotated ears, Posteriorly rotated ears, Abnormal earlobe morphology, Decreas...	ORPHA:79329
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ...	OMIM:618986
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449432
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Impaired T cell function, Optic atrophy, Decreased specific anti-polysacchari...	OMIM:614576
Immunodeficiency 97 With Autoinflammation	Decreased circulating antibody level, Decreased circulating total IgM, Recurrent otitis media, De...	OMIM:619802
Leishmaniasis	Increased circulating antibody level, Anorexia	ORPHA:507
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Ataxia, Decreased circulating I...	OMIM:275350
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T...	ORPHA:331206
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Intention tremor,...	OMIM:212065
Agammaglobulinemia, X-Linked	Decreased circulating IgA level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c...	OMIM:300755
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal...	ORPHA:542323
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Saethre-Chotzen Syndrome	Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop...	ORPHA:794
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level...	OMIM:619652
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Macrotia, Optic atrophy	OMIM:617281
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Ataxia, Impaired T cell function	OMIM:201100
Immunodeficiency 58	Dysphagia, Decreased circulating antibody level, Decreased specific antibody response to vaccinat...	OMIM:618131
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor	OMIM:609541
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Decreased circulating IgG level, Bone marrow hypocellularity	OMIM:301078
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level, Hearing impairment	ORPHA:228123
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Cerebral atrophy, Neurodegeneration, Dystonia	OMIM:272750
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia	OMIM:617301
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment...	ORPHA:521426
Immunodeficiency 36 With Lymphoproliferation	Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:616005
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia, Otitis media	OMIM:602450
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Dysphagia	ORPHA:64744
Riddle Syndrome	Ataxia, Decreased circulating total IgM, Gait disturbance, Otitis media, Decreased circulating Ig...	ORPHA:420741
Alg12-Cdg	Abnormal pinna morphology, Partial absence of specific antibody response to Haemophilus influenza...	ORPHA:79324
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Impaired T cell function	ORPHA:30
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Increased circulating IgA level	ORPHA:343
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Recurrent o...	OMIM:614700
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:615758
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Diffuse cerebral atrophy, Low-set ears, Dystonia, Macrotia, Hearing...	ORPHA:79255
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Decreased circulating IgG level, Transient hypogammaglobulinem...	ORPHA:3132
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas...	ORPHA:2298
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Japanese Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Anorexia, Tremor, Paucity of anterior ho...	ORPHA:79139
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Polyphagia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:66628
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Low-set ears, Dysphagia, C...	OMIM:617527
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Dysphagia, Decreased circulatin...	OMIM:620040
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Polyphagia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:179494
Immunodeficiency 47	Sensorineural hearing impairment, Decreased circulating antibody level, Decreased circulating tot...	OMIM:300972
Vici Syndrome	Decreased circulating IgG level, Sensorineural hearing impairment, Decreased T cell activation, L...	OMIM:242840
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Charge Syndrome	Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ...	OMIM:214800
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Asparagine Synthetase Deficiency	Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Tremor, Macrotia, Global b...	OMIM:615574
Brucellosis	Anorexia, Abnormality of the peripheral nervous system, Chorea, Increased circulating IgG level, ...	ORPHA:1304
Aregenerative Anemia	Abnormality of interleukin secretion, Bone marrow hypocellularity	ORPHA:101096
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Macrotia, Protruding ear	OMIM:601675
Sandhoff Disease	Exaggerated startle response, Ataxia, Orthostatic hypotension, Impaired temperature sensation	OMIM:268800
Trichinellosis	Facial palsy, Vertigo, Increased circulating IgE level, Dysphagia, Tinnitus	ORPHA:863
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Cerebral cortical atrophy	OMIM:618201
Encephalitis Lethargica	Tremor, Increased circulating antibody level	ORPHA:83600
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449395
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Crimean-Congo Hemorrhagic Fever	Anorexia, Vertigo, Increased circulating IgG level, Increased circulating IgM level, Agitation	ORPHA:99827
Prolidase Deficiency	Increased circulating antibody level	OMIM:170100
Distal Renal Tubular Acidosis	Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct	ORPHA:18
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:210900
Pneumocystosis	Increased circulating antibody level	ORPHA:723
Selective Igm Deficiency	Paraproteinemia, Decreased circulating total IgM, Otitis media, Decreased specific antibody respo...	ORPHA:331235
Dubowitz Syndrome	Hyperactivity, Protruding ear, Low-set ears, Otitis media, Decreased circulating IgG level, Decre...	OMIM:223370
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Optic nerve compression, Increased circulating IgG4 level, Incre...	ORPHA:79078
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Increased circulating IgE level, Decreased circulating antibody level, Opistho...	ORPHA:508533
Wiskott-Aldrich Syndrome	Increased circulating IgA level, Reduced natural killer cell activity, Increased circulating IgE ...	OMIM:301000
Hyper-Igd Syndrome	Optic disc pallor, Vertigo, Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
Osteopetrosis, Autosomal Recessive 7	Optic nerve compression, Optic atrophy, Decreased circulating total IgM, Decreased circulating Ig...	OMIM:612301
Ebola Hemorrhagic Fever	Increased circulating antibody level, Dysphagia	ORPHA:319218
Alveolar Echinococcosis	Vertigo, Increased circulating antibody level, Ataxia	ORPHA:284
Velocardiofacial Syndrome	Abnormality of the ear, Impaired T cell function, Aggressive behavior	OMIM:192430
Poems Syndrome	Papilledema, Increased circulating antibody level, Paresthesia, Hyperesthesia	ORPHA:2905
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Oligoclonal T cell expansion, Decreased lymphocyte proliferation in respons...	ORPHA:83471
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Decreas...	ORPHA:183675
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology	ORPHA:1830
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Abnormal fifth cranial nerve morphology, Increased circulating I...	ORPHA:449563
Sandhoff Disease, Infantile Form	Exaggerated startle response, Cerebral cortical atrophy	ORPHA:309155
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi...	ORPHA:2306
Progeroid Short Stature With Pigmented Nevi	Sensorineural hearing impairment, Impaired T cell function, High-frequency hearing impairment	OMIM:176690
Gaucher Disease Type 1	Increased circulating antibody level, Anorexia	ORPHA:77259
Bloom Syndrome	Decreased circulating antibody level, Decreased circulating total IgM, Otitis media, Decreased ci...	ORPHA:125
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Papilledema, Increased circulating antibody level, Anorexia	ORPHA:91500
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Al Amyloidosis	Increased circulating antibody level, Abnormal autonomic nervous system physiology, Dysphagia, Po...	ORPHA:85443
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic...	OMIM:157800
Duane Retraction Syndrome	External ear malformation, Sensorineural hearing impairment, Blepharospasm, Stenosis of the exter...	ORPHA:233
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Increased circulating IgE level, Decreased circulating total I...	OMIM:102700
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Microtia, Low-set ears, Decreased circulating IgG level, Decreas...	OMIM:620005
Viss Syndrome	Exostosis of the external auditory canal, Posteriorly rotated ears, Cupped ear, Increased circula...	OMIM:619472
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Optic atrophy, Increased circulating IgM level, Bone marrow hypocellularity, B...	ORPHA:505248
Cysticercosis	Somatic sensory dysfunction, Increased circulating antibody level, Ataxia	ORPHA:1560
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Progressive sensorineural hearing impairment, Abnormality of T cell physiology	ORPHA:2237
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Gaucher Disease	Ataxia, Tremor, Increased circulating antibody level, Dysphagia, Hearing impairment	ORPHA:355
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
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
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Abnormal cochlea morphology, Large e...	ORPHA:798
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Optic neuropathy, Increased circulating antibody level, Anorexia	OMIM:181000
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level	OMIM:617591
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity	OMIM:242700
Orotic Aciduria	Impaired T cell function	OMIM:258900
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Optic atrophy	OMIM:253800
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel...	ORPHA:649
22Q11.2 Deletion Syndrome	Aganglionic megacolon, Impaired T cell function, Optic atrophy, Overfolded helix, Low-set ears, A...	ORPHA:567
Q Fever	Cryoglobulinemia, Increased circulating antibody level, Anorexia	ORPHA:781
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Brain atrophy, Dystonia	OMIM:618278
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Decreased circulating total IgA, Decreased circulating total IgM, Decreased lymphocyte ...	OMIM:619381
Treacher-Collins Syndrome	Blepharospasm, Microtia, Conductive hearing impairment, Abnormality of the middle ear, Narrow int...	ORPHA:861
Postinfectious Vasculitis	Anorexia, Increased circulating IgA level, Abnormality of the peripheral nervous system, Abnormal...	ORPHA:48435
Primary Sjögren Syndrome	Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Chorea, Decreased circ...	ORPHA:289390
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Increased circulating antibody level, Cerebral atrophy, Dystonia	OMIM:615846
Floating-Harbor Syndrome	Restlessness, Broad-based gait, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsi...	ORPHA:2044
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent...	OMIM:619522
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Optic atrophy, Secretory IgA deficiency, Protruding ear, Low-set ears, Dy...	ORPHA:500150
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Dysphagia	OMIM:618367
Lysinuric Protein Intolerance	Decreased circulating antibody level, Abnormality of humoral immunity, Increased circulating anti...	ORPHA:470
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit...	ORPHA:544482
Digeorge Syndrome	Impaired T cell function, Low-set ears, Attention deficit hyperactivity disorder, Recurrent otiti...	OMIM:188400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Broad-based gait, Inability to walk, Dysphagia, ...	ORPHA:438213
Marburg Hemorrhagic Fever	Dysesthesia, Increased circulating antibody level, Anorexia, Aggressive behavior	ORPHA:99826
Proteus Syndrome	Macrotia, Low-set ears, Narrow internal auditory canal	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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