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 |