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Gene: Cd86 MGI:101773

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CD86 antigen
Synonyms:
B7.2,  B7-2,  Cd28l2,  B70,  Ly58,  Ly-58,  MB7-2

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 Cd86 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Cd86 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased sensory nerve conduction velocity, Decreased nerve conduction v... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Proximal muscle weakness in lower limbs, Onion bulb formation, Decreased mot... OMIM:607706
Neuronopathy, Distal Hereditary Motor, Type Vc
Babinski sign, Frequent falls, Decreased compound muscle action potential amplitude, Chaddock ref... OMIM:619112
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Amyotrophy of ankle musculature, In... ORPHA:90103
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Flexion contr... OMIM:609260
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Segmental peripheral demyelination/remyelination, Decreased motor nerve con... OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Hereditary Motor And Sensory Neuropathy V
Hypertonia, Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Pe... OMIM:600361
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of the Achilles tendon, Babinski sign, Optic atrophy, Spastic paraplegia, Spasticity,... ORPHA:431329
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Dist... OMIM:605253
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... OMIM:615575
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Smal... OMIM:609311
X-Linked Charcot-Marie-Tooth Disease Type 3
Hand muscle weakness, Intrinsic hand muscle atrophy, Demyelinating peripheral neuropathy, Spastic... ORPHA:101077
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Hand muscle weakness, Decreased sensory nerve conduction velocity, Decreased motor nerve conducti... OMIM:608323
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Foot dorsifl... OMIM:118200
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... ORPHA:99948
Null Syndrome
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Progressive spa... ORPHA:280234
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Motor conduction block, Decreased nerve conduction velocity, Segmental peri... ORPHA:2932
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... ORPHA:98856
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Thenar muscle weakness, Distal amyotrophy, Abnormal motor... ORPHA:139536
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Foot ... OMIM:605588
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations, ... OMIM:183050
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Foot dorsiflexor weaknes... OMIM:613287
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... ORPHA:99953
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyelinating motor neurop... ORPHA:99939
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal amy... OMIM:601382
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Distal amyotrophy, U... OMIM:302802
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction, Skeletal muscle atrophy, Decreased... OMIM:612577
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Babinski sign, Abnormality of the foot musculature, Hand muscle atrophy, Fo... ORPHA:100998
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:302801
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... OMIM:619519
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral dem... ORPHA:99944
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Krabbe Disease
Hypertonia, EEG abnormality, Decreased nerve conduction velocity, Decerebrate rigidity, Autoimmun... OMIM:245200
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
X-Linked Charcot-Marie-Tooth Disease Type 6
Thenar muscle atrophy, Decreased nerve conduction velocity, Hand tremor, Lower limb muscle weakne... ORPHA:352675
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Hand muscle weakness, Intrinsic hand muscle atrophy, Peroneal muscle w... ORPHA:101097
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Di... OMIM:610100
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:607678
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Foot dorsiflexor weakness, Distal amyotr... OMIM:616040
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Tremor, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Abnormal nerve conduc... ORPHA:101075
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:614751
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased motor nerve conduction velocity, Distal amyotrop... OMIM:618184
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Proximal muscle weakness in lower limbs, Decreased amplitude of sensory action potentials, Decrea... OMIM:618912
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Flexion cont... OMIM:618404
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Distal upper limb amyotrophy, Abnormality of periphe... ORPHA:65684
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, CNS demyelination, Spastic tetra... OMIM:249900
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand muscle weakness, Dysmetria, Axonal degeneration, Hand tremor, Onion bulb format... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Clumsiness, Limb ataxia, Decreased motor nerve conduction velocity... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, ... OMIM:600882
Optic Atrophy With Demyelinating Disease Of Cns
Ataxia, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination OMIM:165200
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Babinski sign, First dorsal interossei muscle atrophy,... OMIM:270685
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:101078
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating motor neuropathy, Lower limb muscle weakness, Demyelinating sensory neuropathy, Pro... ORPHA:208981
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... ORPHA:98890
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Lower limb muscle weakness, Spasticity, Apraxia, Abnormality of peripher... ORPHA:101001
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Babinski sign, Foot dorsiflexor weakness, Spinal muscu... OMIM:605726
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:604563
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Foot dorsiflexor weakness... OMIM:606483
Charcot-Marie-Tooth Disease Type 1A
Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity, Calf muscle hyp... ORPHA:101081
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, P... ORPHA:101082
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral... DECIPHER:59
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Skeletal muscle hypertrophy, Optic atrophy, Tremor, Abnormal nerve conductio... ORPHA:99014
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... ORPHA:457205
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Distal amyotrophy OMIM:608895
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Neutropenia, Decreased nerve conduction velocity, Dysmetria, Acute my... OMIM:159550
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor ORPHA:1368
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Limb... ORPHA:497764
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1188
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Intrinsic hand muscle atrophy, Decreased motor nerve conduction v... OMIM:616688
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, ... OMIM:606595
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Poor fine motor coordination, Decreased nerve conduction velocity, Proximal muscle weakness in lo... ORPHA:435387
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Foot dorsifle... OMIM:608340
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Onion bulb formation, Distal amyotrophy, Spastic paraplegia, Demy... OMIM:182815
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Joint contracture of the hand, Distal amyotrophy, Optic atrophy, Gait ataxia, Distal upper limb a... OMIM:258650
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... ORPHA:139578
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocit... OMIM:604168
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy, Distal amy... OMIM:311070
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor, Hypomimic f... OMIM:619862
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Foot dorsiflexor wea... OMIM:613641
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:614932
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Limb muscle weakness, Decreased nerve conduction velocity OMIM:615284
Adult Krabbe Disease
Hemiplegia, Ataxia, EEG abnormality, Clumsiness, Hoffmann sign, Babinski sign, Lower limb muscle ... ORPHA:206448
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal... OMIM:619851
Leukodystrophy, Hypomyelinating, 2
Ataxia, Demyelinating motor neuropathy, Spastic paraparesis, Intention tremor, Leukodystrophy, De... OMIM:608804
Charcot-Marie-Tooth Disease Type 1F
Flexion contracture of finger, Demyelinating motor neuropathy, Limb ataxia, Proximal muscle weakn... ORPHA:101085
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... OMIM:252320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... OMIM:618138
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Autoimmune antibody positivity, Peripheral demyelination ORPHA:71211
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, D... OMIM:614436
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Charcot-Marie-Tooth Disease Type 4D
Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Lower limb amyotr... ORPHA:99950
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... OMIM:614399
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Upper limb muscle weakness, Axonal degeneration... OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Decreased nerve conduction velocity, Macroglossia, Abnormal t... ORPHA:85446
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... ORPHA:329478
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Foot dorsiflexor wea... OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Upper l... OMIM:607677
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Inte... OMIM:612674
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hypertonia, Ataxia, Decreased nerve conduction velocity, Dysmetria, Intention tremor, Myoclonus, ... OMIM:618356
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... OMIM:619924
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Hypertonia, Clumsiness, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Slu... ORPHA:2386
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Di... OMIM:604320
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Decreased motor nerve conduction velocity, Foot dorsiflexor... OMIM:607684
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Babinski sign, Peripheral axonal neuropathy, Optic atrophy, Spastic paraple... OMIM:615035
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsiflexor weakness, Dista... OMIM:118300
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... OMIM:270550
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Abnormality of peripheral nerve conduction, Spastic paraplegia ORPHA:101005
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... OMIM:162400
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic neuropathy, Hand muscle weakness, Peroneal muscle weakness, Intrinsic hand muscle atrophy, ... ORPHA:101076
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Intention tremor, Leukodystrophy, Decreased motor nerve conduction velocity, ... OMIM:610532
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Spasticity, Abnormality of extra... OMIM:617672
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
EEG abnormality, Myoclonus, Babinski sign, Abnormal upper motor neuron morphology, Spasticity, Ap... OMIM:221770
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Limb fa... ORPHA:90117
Epilepsy, Progressive Myoclonic, 11
Ataxia, Systemic lupus erythematosus, Intention tremor, Myoclonus, Rigidity, Giant somatosensory ... OMIM:618876
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Foot dorsiflexor w... OMIM:618400
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Skeletal muscle atrophy, Peripheral demyelination, Axonal loss OMIM:616684
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasciculations, Chore... ORPHA:98755
Posterior Column Ataxia With Retinitis Pigmentosa
Ataxia, Flexion contracture of finger, Decreased sensory nerve conduction velocity, Joint contrac... OMIM:609033
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Cerebral hypomyelination... OMIM:601170
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Frequent falls, Onion bulb formation OMIM:618279
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... OMIM:616636
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Foot dorsiflexor weakness, Axonal degeneration/regeneration, Peripheral demyelination, Distal amy... OMIM:607736
Digital Extensor Muscle Aplasia-Polyneuropathy
Muscular dystrophy, Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... OMIM:300400
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Flexion contracture, Onion bulb for... OMIM:218000
Autosomal Recessive Spastic Paraplegia Type 55
Optic neuropathy, Decreased sensory nerve conduction velocity, Spastic paraparesis, Poor fine mot... ORPHA:320375
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Decreased nerve conduction velocity, Orthostatic hypotension, Degenerat... OMIM:118301
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Delayed myelination, Decreased nerve conduction velocity, Type 2 muscle fiber at... ORPHA:319514
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy ORPHA:98916
Multifocal Motor Neuropathy
Fasciculations, Motor conduction block, Limb muscle weakness, Weakness of long finger extensor mu... ORPHA:641
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... ORPHA:397744
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Ataxia, Dysmetria, Intention tremor, Camptodactyly of finger, Abnormal p... ORPHA:48431
Neuronal Intranuclear Inclusion Disease
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... OMIM:603472
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... OMIM:603511
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Peripheral hypomyelination, Spasticity, Peripheral demyelination, Absent brainstem audito... OMIM:609136
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Brady... OMIM:603516
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Lymphopenia OMIM:300988
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal neuropathy, Distal am... OMIM:256840
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Flexion contracture of finger, Proximal muscle weakness in lower... ORPHA:466768
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Decreased nerve conduction velocity ORPHA:2928
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased sensory nerve conduction velocity, Elevated hemoglobin A1c, Decreased motor nerve condu... OMIM:616192
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Autoimmunity, Decreased circulating antibody l... ORPHA:169079
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Tetraplegia, Babinski sign, Chorea, Optic atrophy, S... OMIM:250100
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... OMIM:606070
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis, Knee flexion contracture, Arthrogryposis multiplex congenita, Skeleta... OMIM:616286
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, EEG abnormality, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, C... ORPHA:71277
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Sialidosis Type 1
Ataxia, EEG abnormality, Decreased nerve conduction velocity, Splenomegaly, Myoclonus, Tremor, Sk... ORPHA:812
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Babi... ORPHA:101111
Glut1 Deficiency Syndrome 1
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Para... OMIM:606777
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Spinocerebellar Ataxia 1
Progressive cerebellar ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Dysmetri... OMIM:164400
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Pseudobulbar paralysis, Autonomic erectile dysfunction, Orthostatic hypotension due to au... OMIM:169500
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1933
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Abnormal pyramidal sign, Optic atrophy, Spastic tetrap... OMIM:615419
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Spastic paraparesis, Poor coordination, Abnormal pyramidal s... OMIM:238970
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Skeletal muscle atrophy, Peripheral axonal neuropathy OMIM:613710
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... OMIM:240500
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... OMIM:602433
Tangier Disease
Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Peripheral axonal neuropathy, Distal... OMIM:205400
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Distal amyotrophy, Optic atrophy, Optic disc pallor, L... OMIM:601152
Galloway-Mowat Syndrome 5
Ataxia, Spasticity, Peripheral demyelination OMIM:617731
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Splenomegaly, Abnormal nerve conduction velocity ORPHA:93476
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor nerve conductio... OMIM:619026
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anti-thyroid peroxida... ORPHA:277
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... OMIM:201300
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... ORPHA:298
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Decreased number of periph... OMIM:604484
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Ankle clonus, Knee clonus, Babinski sign, Lower limb muscle weakness, Spastic paraplegia,... OMIM:604360
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Peripheral demyelination OMIM:616733
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Combined Oxidative Phosphorylation Defect Type 39
EEG abnormality, Decreased nerve conduction velocity, Congenital foot contractures, Ankle clonus,... ORPHA:565624
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... OMIM:308230
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Decreased nerve conduction velocity, Leukodystrophy, Decerebrate rigidity, Babinski s... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Decreased nerve conduction velocity, Intention tremor, Leukodystrophy, Decerebrate ri... ORPHA:309263
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response, Peripheral axonal neuropathy, Distal a... ORPHA:320406
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Abnormal pyramidal sign, Optic atrophy, Spastic tetr... OMIM:256600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chronic axonal neuropathy, Increased circulating antibody level, Limb ataxia, Decreased motor ner... OMIM:606002
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Foot dorsiflexor weakness, Distal upper limb amyotrophy, Distal lower limb ... OMIM:614455
Lethal Ataxia With Deafness And Optic Atrophy
Ataxia, Severe demyelination of the white matter, EEG with focal epileptiform discharges, Decreas... ORPHA:1187
Japanese Encephalitis
Neutrophilia, EEG with burst suppression, Tremor, Cogwheel rigidity, Skeletal muscle atrophy, Int... ORPHA:79139
Bickerstaff Brainstem Encephalitis
Ataxia, EEG abnormality, Weakness of facial musculature, Decreased motor nerve conduction velocit... ORPHA:79138
Chediak-Higashi Syndrome
Ataxia, Decreased nerve conduction velocity, Hemophagocytosis, Splenomegaly, Abnormal dense granu... OMIM:214500
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve... OMIM:615368
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Poor fine motor coordination, Hand tremor, Flexion contracture, Quadriceps ... ORPHA:99947
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis... ORPHA:444463
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, Decreased nerve conduction velocity, Peripheral hypomyelination, Calf musc... OMIM:618733
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... OMIM:614470
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Ataxia, Peripheral demyelination, CNS demyelination OMIM:220111
Yuan-Harel-Lupski Syndrome
Gait ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:616652
Scheie Syndrome
Cerebral palsy, Splenomegaly, Spastic paraparesis, Abnormal nerve conduction velocity ORPHA:93474
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Infantile Neuroaxonal Dystrophy
Ataxia, Abnormal autonomic nervous system physiology, Flexion contracture, Abnormal pyramidal sig... ORPHA:35069
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Decreased nerve conduction velocity, Intention tremor, Leukodystrophy, Decerebrate ri... ORPHA:309271
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Pleoconial Myopathy With Salt Craving
Paralysis, Myopathy, Proximal amyotrophy OMIM:262900
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:618394
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paralysis OMIM:608634
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Abetalipoproteinemia
Ataxia, Acanthocytosis, Peripheral demyelination, CNS demyelination OMIM:200100
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Spasticit... ORPHA:485421
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... ORPHA:206436
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Skeletal muscle atro... ORPHA:168563
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paralysis OMIM:158590
Rasmussen Subacute Encephalitis
EEG with focal spikes, Continuous spike and waves during slow sleep, Increased theta frequency ac... ORPHA:1929
Autosomal Recessive Spastic Paraplegia Type 35
Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Foot dorsiflexor weakness, Optic atro... ORPHA:171629
Myeloma, Multiple
Paraproteinemia OMIM:254500
Friedreich Ataxia
Poor fine motor coordination, Limb ataxia, Dysmetria, Intention tremor, Decreased motor nerve con... ORPHA:95
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increased circulatin... OMIM:603909
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Axonal degeneration, Peripheral axonal neuropathy, Decreased number of per... OMIM:615490
Cerebrotendinous Xanthomatosis
Paraparesis, Ataxia, Hypermyelinated retinal nerve fibers, Axonal degeneration, Babinski sign, Op... ORPHA:909
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphopenia, Sple... OMIM:616100
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Ataxia, Spastic paraparesis, Abnormal pyramidal sign, Peripheral axonal neuropat... ORPHA:254930
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Abnormal autonomic nervous system physiology, Myoclonus, Paralysis, Hashimoto thyro... ORPHA:83601
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Flexion contracture of finger, Truncal titubation, Axonal degeneration, Camptodactyly, Ga... ORPHA:88628
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis, Leukocytosis ORPHA:90064
Charcot-Marie-Tooth Disease Type 1E
Peroneal muscle weakness, Hand muscle weakness, Demyelinating peripheral neuropathy, Decreased ne... ORPHA:90658
Trigeminal Neuralgia
Cranial nerve compression, Peripheral demyelination, CNS demyelination ORPHA:221091
Poliomyelitis
Paraparesis, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Hyperkinetic mov... ORPHA:2912
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Pseudopapilledema, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... OMIM:606183
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis... OMIM:105550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Axonal loss OMIM:300857
Friedreich Ataxia
Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Babinski sign, Optic atrophy, D... OMIM:229300
Charcot-Marie-Tooth Disease Type 4C
Demyelinating peripheral neuropathy, Weakness of facial musculature, Decreased motor nerve conduc... ORPHA:99949
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal sign, Sensory axonal neuropathy, Distal amyotrophy, Spastic paraplegia, Decrea... OMIM:256850
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... ORPHA:275872
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Lymphad... OMIM:618495
Warburg Micro Syndrome 4
Flexion contracture, Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Spa... OMIM:615663
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Foot... ORPHA:477817
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... OMIM:616005
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... ORPHA:572
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Ataxia, EEG abnormality, Decreased sensory nerve conduction velocity, Dysmetria, Joint contractur... ORPHA:456312
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Distal lower limb muscle weakness OMIM:613640
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity OMIM:243000
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Decreased circulati... OMIM:619652
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Foot dorsiflexor weakness, Shoulder girdle muscle atrophy, Distal amyotrophy... OMIM:606071
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Limb ataxia, Axonal degener... OMIM:208920
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Ataxia, Abnormal CNS myelination, Decreased nerve conduction velocity OMIM:610651
Spinocerebellar Ataxia 25
Ataxia, Babinski sign, Facial myokymia, Decreased number of peripheral myelinated nerve fibers, O... OMIM:608703
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Ataxia, Neutropenia, Decreased nerve conduction velocity, Abnormal... ORPHA:167
Porphyria, Acute Hepatic
Hemolytic anemia, Paralysis, Respiratory paralysis OMIM:612740
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:619802
Tick-Borne Encephalitis
Leukocytosis, Abnormal autonomic nervous system physiology, Leukopenia, Hyperkinetic movements, I... ORPHA:297
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Charcot-Marie-Tooth Disease Type 4B2
Hand muscle weakness, Poor fine motor coordination, Proximal muscle weakness in lower limbs, Weak... ORPHA:99956
Peho Syndrome
Optic atrophy, Myoclonus, Peripheral dysmyelination, Hypsarrhythmia OMIM:260565
Multiple Sulfatase Deficiency
Ataxia, Splenomegaly, Spasticity, CNS demyelination, Peripheral demyelination OMIM:272200
Purine Nucleoside Phosphorylase Deficiency
Hypertonia, Ataxia, Systemic lupus erythematosus, Lymphopenia, Spastic paraparesis, Cerebral pals... ORPHA:760
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Foot dorsiflexor weakness, Distal amyotrophy, Decrea... ORPHA:36386
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Peripheral demyelination, Axonal... OMIM:252160
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Leukopenia, Tetraparesis, Optic atrophy, Macrocytic anemia, Choreoathetosis,... ORPHA:27
Pgm3-Cdg
Ataxia, Abnormal proportion of CD8-positive T cells, Rheumatoid factor positive, Bone marrow hypo... ORPHA:443811
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Hurler Syndrome
Spastic paraparesis, Splenomegaly, Macroglossia, Cerebral palsy, Abnormal pyramidal sign, Camptod... ORPHA:93473
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Thymic Tumor
Neuroendocrine neoplasm, Diaphragmatic paralysis, Autoimmunity, Dysgammaglobulinemia ORPHA:100100
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Decreased nerve conduction veloc... OMIM:277900
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Ataxia, Limb ataxia, Abnormal autonomic nervous system physiology, Decreased distal sensory nerve... OMIM:614575
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Ataxia, Decreased nerve conduction velocity OMIM:614863
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Decerebrate rigidity, Progressive spasticity, Tremor... ORPHA:512
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Ataxia, Severe demyelination of the white matter, Poor fine motor coordinat... ORPHA:79282
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Glutaric Acidemia I
Delayed myelination, Opisthotonus, Spastic diplegia, Rigidity, Choreoathetosis, Symmetrical progr... OMIM:231670
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619752
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Orthostatic hypotension, Decreased number of peripheral myelinated nerve fibers, Peripheral axona... OMIM:608720
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... ORPHA:99
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:275350
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Molybdenum Cofactor Deficiency, Complementation Group A
Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Spastic tetraparesis, Peripheral demyelinati... OMIM:252150
Thymoma
Systemic lupus erythematosus, Demyelinating peripheral neuropathy, Rheumatoid arthritis, Abnormal... ORPHA:99867
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... OMIM:613011
Mitochondrial Dna-Associated Leigh Syndrome
Hypertonia, Ataxia, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remye... ORPHA:255210
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Delayed peripheral myelination, Progressive spastic paraplegia, Spasticity, Lower limb sp... ORPHA:464282
Cockayne Syndrome A
Hip contracture, Abnormal peripheral myelination, Ataxia, Decreased nerve conduction velocity, Sp... OMIM:216400
Cystic Fibrosis
Exocrine pancreatic insufficiency, Decreased circulating antibody level, Hepatomegaly, Biliary ci... ORPHA:586
Variegate Porphyria
Paralysis OMIM:176200
Glossopharyngeal Neuralgia
Cranial nerve compression, Autoimmunity, Schwannoma, Vocal cord paralysis, Abnormal glossopharyng... ORPHA:221098
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Leukodystrophy, Tics, Spasticity, Hypsarrhythmia, Peripheral demyelinat... OMIM:619475
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Decreased muscle mass, Decreased nerve conduction velocity, Splenomegaly OMIM:261515
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Respiratory paralysis, Periodic hypokalemic paresis, Increased ... ORPHA:681
Cockayne Syndrome B
Abnormal peripheral myelination, Ataxia, Decreased nerve conduction velocity, Splenomegaly, Patch... OMIM:133540
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... OMIM:607483
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Splenomegaly ORPHA:585
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Leukodystrophy, Hepatosplenomegaly, Hemiparesis, T lymphocytopenia, Panhypogammaglob... ORPHA:79124
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis OMIM:215250
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Tremor, Foot joint contracture, Abnor... ORPHA:90321
Cockayne Syndrome
Cerebral dysmyelination, Hypertonia, Ataxia, Demyelinating peripheral neuropathy, Decreased nerve... ORPHA:191
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... OMIM:614878
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... ORPHA:276244
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Paragangliomas 2
Glomus jugular tumor, Glomus tympanicum paraganglioma, Vagal paraganglioma, Chemodectoma, Vocal c... OMIM:601650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increase... ORPHA:83313
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Rheumatoid factor positive, Bone marrow hypocellular... ORPHA:3261
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circulating total IgA, D... OMIM:300972
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Juvenile rheumatoid arthritis, ... ORPHA:275
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... OMIM:618986
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Splenomegaly, Absent specific antibod... OMIM:102700
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Lymphopeni... ORPHA:90362
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Ataxia OMIM:256810
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Clumsiness, Ankle clonus, Knee clonus, Hand muscle atrophy, Tongue fasciculations, Crania... OMIM:211530
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Ataxia, Neutropenia in presence of ant... OMIM:613179
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation, Distal amyotrophy, Progre... ORPHA:2821
Congenital Disorder Of Deglycosylation 1
Intrinsic hand muscle atrophy, Action tremor, Delayed myelination, Decreased sensory nerve conduc... OMIM:615273
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Snakebite Envenomation
Muscle fiber necrosis, Pseudobulbar paralysis, Respiratory paralysis, Rhabdomyolysis, Paralysis, ... ORPHA:449285
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Leg muscle stiffness, Progressive spastic paraparesis, Para... ORPHA:43
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hyp... OMIM:617388
Acute Transverse Myelitis
Paraparesis, Distal lower limb muscle weakness, Systemic lupus erythematosus, Abnormal autonomic ... ORPHA:139417
Choreoacanthocytosis
Chorea, Slurred speech, Hypertonia, Resting tremor, Splenomegaly, Hyperkinetic movements, Parkins... ORPHA:2388
East Syndrome
Ataxia, Action tremor, Peripheral hypomyelination, Peripheral axonal neuropathy, Lower limb muscl... ORPHA:199343
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... ORPHA:2137
Mucopolysaccharidosis Type 2
Motor stereotypy, Flexion contracture of digit, Decreased nerve conduction velocity, Macroglossia... ORPHA:580
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis, Myopathy OMIM:613345
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Ataxia, Intrinsic hand muscle atrophy, Babinski sign, Foot dorsiflexor weakness, Weakness of the ... OMIM:302900
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Spasticity, Motor neuron atrophy, Skeletal muscle atrophy ORPHA:803
Bilateral Perisylvian Polymicrogyria
Facial diplegia, EEG with frontal focal spikes, Paraparesis, Pseudobulbar paralysis, EEG with par... ORPHA:98889
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Cockayne Syndrome Type 3
Demyelinating peripheral neuropathy, Flexion contracture, Splenomegaly, Intention tremor, Periphe... ORPHA:90324
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Ataxia-Telangiectasia
Ataxia, Decreased circulating IgA level, Progressive cerebellar ataxia, Lymphopenia, Decreased ci... OMIM:208900
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Myasthenia Gravis
Limb muscle weakness, Facial palsy, Autoimmunity OMIM:254200
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy... ORPHA:449400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy... OMIM:600802
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Orthostatic hypotension, Parkinsonism, Peripheral axonal neuropathy, Lower l... ORPHA:2822
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Lymphopenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, S... OMIM:607944
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... OMIM:612301
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circu... OMIM:615934
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Complement deficiency, Eosino... ORPHA:449432
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Igg4-Related Pachymeningitis
Paraparesis, Eosinophilia, Lower limb muscle weakness, Increased circulating IgG4 level, Abnormal... ORPHA:449427
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Cranial nerve compression, Abnormality of the eleventh cranial ner... ORPHA:268882
Rift Valley Fever
Paraparesis, Decerebrate rigidity, Hemiparesis, Increased circulating IgG level, Paralysis, Incre... ORPHA:319251
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction, Ataxia, Babinski sign, Incoordination OMIM:601992
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Thymic Aplasia
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... ORPHA:83471
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hash... ORPHA:64744
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Hepatitis, Portal hypertension, Panc... OMIM:613385
Hyperkalemic Periodic Paralysis
Hypertonia, Flexion contracture, Skeletal muscle hypertrophy, Cerebral palsy, Skeletal muscle atr... ORPHA:682
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Dyskeratosis Congenita, Digenic
Anemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... OMIM:620040
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Chronic axonal neuropathy, Ataxia, Peripheral hypomyelination, Intention tremor, Dysdiadochokinesis OMIM:612780
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... OMIM:272750
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Decreased lymphocyte proliferation in response to mitogen, Lymphope... ORPHA:508533
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Ch... ORPHA:562639
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... ORPHA:29073
Adrenoleukodystrophy
Paraparesis, Limb ataxia, Truncal ataxia, Lower limb muscle weakness, Spastic paraplegia, Incoord... OMIM:300100
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... ORPHA:79330
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Paraparesis, Plexiform neurofibroma, Lower limb muscle... OMIM:162210
Immunodeficiency 17
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... OMIM:615607
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Abnormal autonomic nervous system p... OMIM:256800
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Abnormality of the extraocular muscles, Antinuclear antibody pos... ORPHA:79078
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... OMIM:619313
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... OMIM:301000
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Autoimmune Polyendocrinopathy Type 4
Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopen... ORPHA:227990
Simple Cryoglobulinemia
Viral hepatitis, Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal eleva... ORPHA:91139
Autoimmune Polyendocrinopathy Type 3
Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopen... ORPHA:227982
Arachnoid Cyst
Paraparesis, Cranial nerve compression, Hemiparesis, Lower limb muscle weakness, Tetraparesis, Fa... ORPHA:2356
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia, Abnormality of the thymus OMIM:208910