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,  MB7-2,  B70,  Ly-58,  Cd28l2,  B7.2,  Ly58

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Neuronopathy, Distal Hereditary Motor, Type Vc
Chaddock reflex, Decreased compound muscle action potential amplitude, Thenar muscle atrophy, Dis... OMIM:619112
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Basal lamina onion bulb formation,... OMIM:614895
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo... OMIM:611228
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Intrinsic hand muscle atrophy, Dec... ORPHA:90103
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Hypertonia, Abnormal pyramidal sign, Distal amyotrophy... OMIM:600361
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... OMIM:601098
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Abnormal myelination, Distal lower limb amyotrophy, Abnormality of the Achill... ORPHA:431329
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Peripheral hypomyel... OMIM:605253
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Lower limb muscle weakness, W... OMIM:615575
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Tremor, Hand muscle weakness, Spastic paraparesis, Int... ORPHA:101077
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Decreased motor nerve conduction velocity, Peri... OMIM:609311
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Paral... OMIM:605285
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Motor conduction block, Abnormal nerve conduction velocity, Decreased nerve... ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Flexion contracture, Decreased num... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal amyotrophy... OMIM:608673
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle weakness, Thenar muscle atrophy, Distal l... ORPHA:139536
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Ragged-red muscle fibers, Ab... ORPHA:276435
Null Syndrome
Decreased nerve conduction velocity, Progressive spastic quadriplegia, Demyelinating peripheral n... ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Frequent falls, Limb muscle weakness OMIM:614228
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity, Fasciculation... OMIM:183050
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Demyelinating peripheral neuro... ORPHA:99953
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Distal amyotrophy, Decreased nerve conduction velocity, Foot dorsiflexor weakness, U... OMIM:302802
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
EMG: myopathic abnormalities, Upper limb muscle weakness, Demyelinating sensory neuropathy, Lower... ORPHA:99939
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:868
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Hand muscle weakness, Abnormal motor nerve conduction velocity, Hand muscle atro... ORPHA:100998
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Krabbe Disease
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Hypertonia, CNS demyelination, ... OMIM:245200
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Upper li... OMIM:302801
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Hand muscle atrophy, Peripheral demyelination, Decreased nerve conductio... ORPHA:99944
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Skeletal muscle atrophy,... OMIM:613287
X-Linked Charcot-Marie-Tooth Disease Type 6
Lower limb muscle weakness, Thenar muscle atrophy, Distal lower limb amyotrophy, Decreased nerve ... ORPHA:352675
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal auditory evoked potentials... OMIM:601382
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal amyotrophy, Foot dorsiflexor weakness, Upper li... OMIM:607678
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Distal amyotrophy, Peripheral ax... OMIM:610100
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Ataxia, Distal lower limb amyotrophy, Distal upper li... ORPHA:101075
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:614751
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Flexion contracture, Demyelinating peripheral neuropath... OMIM:618404
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Distal lower limb muscle weakness, Proximal muscle weakness in lower limbs, Decreased motor nerve... OMIM:618912
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Spastic tetraparesis, Babinski sign, Peripheral... OMIM:249900
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tremor, Incoordination, Hand tremor, Hand muscle weakn... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Roussy-Lévy Syndrome
Postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Clumsiness, Intrinsic ha... ORPHA:3115
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Intention tremor, Babinski sign, Decreased nerve conduction velo... ORPHA:98890
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Tremor, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 21
Apraxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Lower limb muscle... ORPHA:101001
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Distal amyotrophy, Babinski s... OMIM:605726
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:604563
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination, Onion bulb formation, Distal amyotrophy, Axonal degeneration/... OMIM:606483
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Demyelina... ORPHA:101081
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Abnormal nerve conduction velocity, Paraparesis, Skeletal muscle hypertrophy, Ataxia, Opt... ORPHA:99014
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, Skeletal mu... ORPHA:101082
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, Peripheral... DECIPHER:59
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal amyotrophy, Fascicul... OMIM:606595
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Joint contractures involving the joints of the feet, Sensory... ORPHA:457205
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Distal amyotrophy, Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity ORPHA:1368
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Acute myelomonocytic leukemia, Neutropenia, Ankle clonus, At... OMIM:159550
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Skeletal muscle atrophy OMIM:618184
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Choreoathetosis, Spastic paraparesis, ... OMIM:608804
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Distal amyotrophy, Pe... ORPHA:497764
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity ORPHA:1188
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Distal amyotrophy, Decreased number of large peri... OMIM:608340
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Scapular winging, Poor fine motor coordination, Quadriceps muscle weakness, Hand muscle atrophy, ... ORPHA:435387
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Decreased motor nerve conduction velocity, Abnormal autonomic nervous system ... ORPHA:139578
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Distal amyotrophy, Decrea... OMIM:601455
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Gait ataxia, Distal amyotrophy, Joint contracture of the hand, Peripheral demyelination, Optic at... OMIM:258650
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb formation, Distal amyotrophy, De... OMIM:182815
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Peripheral hypomyelination, Ataxia, Peripheral... OMIM:604168
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination, Distal amy... OMIM:311070
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:614932
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Adult Krabbe Disease
Hemiplegia, Prolonged brainstem auditory evoked potentials, Clumsiness, Hoffmann sign, Upper limb... ORPHA:206448
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Limb muscle weakness, Decreased nerve conduction velocity OMIM:615284
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Hand muscle atrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy,... ORPHA:101085
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Proximal mu... OMIM:618138
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Distal amyotrophy, Axonal degeneration/regeneration, P... OMIM:614436
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action... ORPHA:99950
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Tremor, Scapular winging, Intrinsic hand muscle atrophy, Weakness o... ORPHA:329478
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Distal amyotrophy, Decreased numb... OMIM:607831
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Autoimmune antibody positivity, Peripheral demyelination ORPHA:71211
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Segmental peripheral demyelination/remyelination, Upper limb muscle weakness, ... OMIM:607791
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Wild Type Abeta2M Amyloidosis
Macroglossia, Decreased amplitude of sensory action potentials, Axonal loss, Tetraparesis, Decrea... ORPHA:85446
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Foot dorsiflexor weakness, Distal amyotrophy, Decreased number of peripheral... OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal amyotrophy, Axonal degeneration/regeneration, Upper limb muscle weakness, Decreased number... OMIM:607677
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Flexion contracture, Facial palsy, Nemaline bodies, Di... OMIM:607684
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Intention tremor, Ataxia, Myoclonus, Dysmetria, Decreased nerve c... OMIM:618356
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Achilles tendon contracture, Distal amyotrophy, Dysmetria, Decreased ne... OMIM:612674
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction, Paraparesis, Spastic paraplegia ORPHA:101005
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Slurred speech, Hypertonia, Tetraparesis, EEG with generalized slow activity, Decreas... ORPHA:2386
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal amyotrophy, Limb muscle weakness, Foot dorsifle... OMIM:118300
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Onion bulb formation, Peripheral axonal neuropathy, Babinski sign, Clonus, Op... OMIM:615035
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Decreased sensory nerve co... OMIM:270550
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Diaphragmatic paralysis, Spinal muscular atrophy, Decreased nerve conduc... OMIM:604320
X-Linked Charcot-Marie-Tooth Disease Type 2
Tibialis atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Intrinsic hand... ORPHA:101076
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... OMIM:617765
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Lower limb muscle weakness, Abnormal peripheral... ORPHA:90117
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Axonal loss, Abnormal upper motor neuron morphology, EEG abnormality, Myoclonus, Babinsk... OMIM:221770
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Abnormal pyramidal sign, Ataxi... OMIM:617672
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Spastic tetraplegia, Peripheral demyelination, Myopathy, Optic atrophy OMIM:618237
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spastic paraparesis, Peripheral demyelination, Peripheral hypomyelination, Long-segment aganglion... OMIM:609136
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Distal amyotrophy, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased distal sens... OMIM:618400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Epilepsy, Progressive Myoclonic, 11
Systemic lupus erythematosus, Ataxia, Giant somatosensory evoked potentials, Myoclonus, Intention... OMIM:618876
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Abnormal nerve conduction velocity, Chorea, Slurred speech, ... ORPHA:98755
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Abnormal nerve conduction velocity, Muscular dystrophy, Aplasia/Hypoplas... ORPHA:2926
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... OMIM:611926
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Frequent falls OMIM:618279
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, F... OMIM:218000
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Axonal degeneration/regeneration, Foot dorsiflexor weakness, Peripheral demyel... OMIM:607736
Autosomal Recessive Spastic Paraplegia Type 55
Arthrogryposis multiplex congenita, Decreased sensory nerve conduction velocity, Spastic parapare... ORPHA:320375
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Congenital muscular dyst... OMIM:601170
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Skeletal muscle atrophy, ... OMIM:162400
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Orthostatic hypotension, Axonal loss, Degeneration of anterior horn cell... OMIM:118301
Multifocal Motor Neuropathy
Motor conduction block, Fasciculations, Limb muscle weakness, Weakness of long finger extensor mu... ORPHA:641
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy ORPHA:98916
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, Intention tremor, Lower limb muscle we... OMIM:610532
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber... ORPHA:319514
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Tremor, Lower limb muscle weakness, Decreased nerve conduction velo... ORPHA:397744
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Flexion contracture of finger, Camptodactyly, Ataxia... OMIM:609033
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Acute rhabdomyolysis, Motor axonal neuropathy, Abnormal pyramidal sign, ... ORPHA:48431
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, A... OMIM:603472
Vocal Cord And Pharyngeal Distal Myopathy
Vocal cord paresis, Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Amyotro... ORPHA:600
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Decreased nerve conduction velocity ORPHA:2928
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Inclusion Body Myositis
Abnormal muscle fiber morphology, Autoimmunity, Quadriceps muscle weakness, Rimmed vacuoles, Skel... ORPHA:611
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Diaphragmatic paralysis, Spinal muscular atrophy, Hand muscle weakness, Hypertonia, Limb-girdle m... ORPHA:466768
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Intentio... ORPHA:397946
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Ataxia ORPHA:66631
Classic Glucose Transporter Type 1 Deficiency Syndrome
Apraxia, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Abnormal erythrocyte morphology, EEG... ORPHA:71277
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Paralysis, Knee flexion contracture, Skeletal muscle atrophy,... OMIM:616286
Spinocerebellar Ataxia 25
Facial myokymia, Babinski sign, Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:608703
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Decreased motor nerve conduction velocity, Lower limb spasticity, Spastic gai... OMIM:256840
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Increased... OMIM:618944
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Contractures of the joints of the lower limbs, Peripheral axonal neuropathy, Paralysis, Skeletal ... OMIM:613710
Glut1 Deficiency Syndrome 1
Hemiparesis, Paralysis, Ataxia, EEG abnormality, Myoclonus, Babinski sign, Choreoathetosis, Spast... OMIM:606777
Sialidosis Type 1
Tremor, Slurred speech, Ataxia, Splenomegaly, EEG abnormality, Myoclonus, Skeletal muscle atrophy... ORPHA:812
Spinocerebellar Ataxia 1
Dysdiadochokinesis, Decreased motor nerve conduction velocity, Decreased amplitude of sensory act... OMIM:164400
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraparesis, Abnormal pyramidal sign, Poor coordination, Decreased nerve conduction veloc... OMIM:238970
Metachromatic Leukodystrophy
Chorea, Decreased nerve conduction velocity, Ataxia, Spastic tetraplegia, Babinski sign, Peripher... OMIM:250100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Thrombocytope... ORPHA:169079
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Leukodystrophy, Orthostatic hypotension due to autonomic dysfunction, Sym... OMIM:169500
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity ORPHA:1933
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Abnormal pyramidal sign, Spastic tetraplegia, Skeletal... OMIM:615419
Spinocerebellar Ataxia Type 25
Gait ataxia, Facial myokymia, Progressive cerebellar ataxia, Babinski sign, Decreased number of l... ORPHA:101111
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis, Distal amyotrophy OMIM:158580
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Tangier Disease
Peripheral demyelination, Distal amyotrophy, Peripheral axonal neuropathy, Left ventricular hyper... OMIM:205400
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Vocal cord paresis, Distal amyotrophy, Axonal degenera... OMIM:601152
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Galloway-Mowat Syndrome 5
Spasticity, Ataxia, Peripheral demyelination OMIM:617731
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Abnormal pyramidal sign, Splenomegaly ORPHA:93476
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating... OMIM:619281
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, ... ORPHA:277
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Degeneration of anterior horn cells, Decreased number of peripheral myelinat... OMIM:604484
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Abnormality of the extraocular muscles, Decreased sens... ORPHA:298
Neurodegeneration With Brain Iron Accumulation 2A
Abnormal pyramidal sign, Ataxia, Spastic tetraplegia, Decreased nerve conduction velocity, Optic ... OMIM:256600
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Peripheral demyelination OMIM:616733
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction... OMIM:619026
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Knee clonus, Lower limb muscle weakness, Ankle clonus, Ataxia, Decreased numb... OMIM:604360
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... OMIM:201300
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Hypsarrhythmia, Ankle clonus, Limb hypertonia, Lower limb spasticit... ORPHA:565624
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Tremor, Gait ataxia, Head tremor, Increased circulatin... OMIM:606002
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Decreased number of peripheral myelinated nerve fib... ORPHA:320406
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Chediak-Higashi Syndrome
Hemophagocytosis, Tremor, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neu... OMIM:214500
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Spinal cord po... ORPHA:1187
Japanese Encephalitis
Pill-rolling tremor, Abnormality of extrapyramidal motor function, Hypertonia, Interictal epilept... ORPHA:79139
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal upper limb amyotrophy, Axonal loss, Onion bulb formation, Distal lower limb amyotrophy, Fo... OMIM:614455
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Metachromatic Leukodystrophy, Juvenile Form
Leukodystrophy, Clumsiness, Progressive gait ataxia, Intention tremor, Decerebrate rigidity, Babi... ORPHA:309263
Metachromatic Leukodystrophy, Late Infantile Form
Leukodystrophy, Gait ataxia, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Babinski ... ORPHA:309256
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Hand muscle weakness, Hand tremor, Poor fine motor coordination, Flexion contrac... ORPHA:99947
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Decreased amplitude of sensory action potentials, Peripheral hypomy... OMIM:618733
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, CNS demyelination, Ataxia, Peripheral demyelination OMIM:220111
Scheie Syndrome
Abnormal nerve conduction velocity, Cerebral palsy, Spastic paraparesis, Splenomegaly ORPHA:93474
Yuan-Harel-Lupski Syndrome
Gait ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity OMIM:616652
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Decrease... OMIM:615368
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Abnormal pyramidal sign, Spastic tetraparesis, Abnormal autonomic nervou... ORPHA:35069
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:617006
Pleoconial Myopathy With Salt Craving
Myopathy, Paralysis, Proximal amyotrophy OMIM:262900
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Abetalipoproteinemia
Acanthocytosis, CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paralysis OMIM:608634
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Decreased number of peripheral myelinated nerve fibe... OMIM:256850
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Metachromatic Leukodystrophy, Adult Form
Leukodystrophy, Clumsiness, Orthostatic hypotension due to autonomic dysfunction, Progressive gai... ORPHA:309271
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc p... ORPHA:485421
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis OMIM:105500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Myeloma, Multiple
Paraproteinemia OMIM:254500
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Spastic paraplegia, Spastic tetraparesis, Oculomotor apraxia, Lower limb hype... ORPHA:171629
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paralysis OMIM:158590
Friedreich Ataxia
Decreased motor nerve conduction velocity, Gait ataxia, Chorea, Limb ataxia, Poor fine motor coor... ORPHA:95
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Cerebrotendinous Xanthomatosis
Abnormality of extrapyramidal motor function, Palatal myoclonus, Abnormal motor evoked potentials... ORPHA:909
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Spastic dipl... ORPHA:206436
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Poliomyelitis
Abnormal motor nerve conduction velocity, Paraparesis, Hyperkinetic movements, Lower limb muscle ... ORPHA:2912
Charcot-Marie-Tooth Disease Type 1E
Hand muscle weakness, Peroneal muscle atrophy, Demyelinating peripheral neuropathy, Peroneal musc... ORPHA:90658
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hashimoto thyroiditis, Abnormal autonomic nervous system physiology, Paralysis, Thr... ORPHA:83601
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, Vocal cord paralys... OMIM:615490
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Spastic paraparesis, Abnormal pyramidal sign, Lower limb muscle weakness, Ataxia... ORPHA:254930
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphadenitis, Decreased p... ORPHA:331206
Acute Peripheral Arterial Occlusion
Leukocytosis, Limb muscle weakness, Paralysis ORPHA:90064
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, Autoimmunity, Hemiparesis, Interictal epileptiform activi... ORPHA:1929
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Abnormal peripheral... ORPHA:168563
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Tetraparesis, Abnormal lower motor neuron morphology, Amyotrophic lateral s... OMIM:105550
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Ataxia, Paralysis, Pseudopapilledema, Parkinsonism ORPHA:140989
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Flexion contracture of finger, Camptodactyly, Ataxia, Abnormal sensory nerve conduct... ORPHA:88628
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Distal amyotrophy, Dysmetria, Limb fascicu... OMIM:606183
Charcot-Marie-Tooth Disease Type 4C
Tibialis atrophy, Gait ataxia, Scapular winging, Decreased muscle mass, Abnormal motor nerve cond... ORPHA:99949
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Frontotemporal Dementia With Motor Neuron Disease
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Tetraparesis, Abnormal lower ... ORPHA:275872
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Ga... OMIM:229300
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Limb ataxia, Oculomotor apraxia, Ataxia, Di... OMIM:208920
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture, Spastic te... OMIM:615663
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Foot dorsiflexor weakn... ORPHA:477817
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination, Optic atrophy, Ataxia, Decreased nerve conduction velocity OMIM:610651
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Vocal cord paresis, Hand muscle atrophy, Distal amyotrophy, Foot ... OMIM:606071
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Gait ataxia, Autoimmune thrombocytopenia, Autoimmunity... ORPHA:572
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Skeletal ... ORPHA:456312
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Abnormal central motor function, Spastic paraparesis, Autoimmune th... ORPHA:760
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Spastic paraplegia, Tremor, Hemophagocytosis, Vacuolate... ORPHA:167
Tick-Borne Encephalitis
Tremor, Abnormal cranial nerve morphology, Increased circulating IgM level, Incoordination, Speec... ORPHA:297
Porphyria, Acute Hepatic
Hemolytic anemia, Paralysis, Respiratory paralysis OMIM:612740
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD4-positive helper T cells, Lymph node hypoplasia, Abnor... ORPHA:276
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Multiple Sulfatase Deficiency
Peripheral demyelination, Ataxia, Splenomegaly, CNS demyelination, Spasticity OMIM:272200
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Peho Syndrome
Peripheral dysmyelination, Optic atrophy, Myoclonus, Hypsarrhythmia OMIM:260565
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... OMIM:267500
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Megaloblastic an... OMIM:617780
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Hypertonia, Opisthotonus, Spastic tetraplegia, Peripheral demyelination, Myoclonic s... OMIM:252160
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Tetraparesis, Ataxia, Thrombocytopenia, Leukopenia, Anemia, Optic atrophy, Choreoath... ORPHA:27
Pgm3-Cdg
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... ORPHA:443811
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Amyotrophic lateral sclerosis, Paralysis, Athetosis OMIM:300857
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Thymic Tumor
Autoimmunity, Neuroendocrine neoplasm, Diaphragmatic paralysis, Dysgammaglobulinemia ORPHA:100100
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Ataxia, Decreased nerve conduction velocity OMIM:614863
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Hurler Syndrome
Camptodactyly of finger, Macroglossia, Spastic paraparesis, Abnormal nerve conduction velocity, A... ORPHA:93473
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Poor fine motor coordination, Neutropenia, Ataxia, Severe demyelination of ... ORPHA:79282
Metachromatic Leukodystrophy
Tremor, Incoordination, Ataxia, Decerebrate rigidity, Decreased nerve conduction velocity, Progre... ORPHA:512
Cockayne Syndrome A
Peripheral dysmyelination, Tremor, Ataxia, Patchy demyelination of subcortical white matter, Abno... OMIM:216400
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination, Rigidity, Spastic diplegia... OMIM:231670
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Orthostatic hypotension, Decreased number of... OMIM:608720
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Spastic tetraparesis, Opisthotonus, Spastic tetraplegia, Peripheral demyelination, M... OMIM:252150
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, Autoimmune hemol... OMIM:613011
Mitochondrial Dna-Associated Leigh Syndrome
Gait ataxia, Chorea, Hypertonia, Demyelinating peripheral neuropathy, Ataxia, Ragged-red muscle f... ORPHA:255210
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Variegate Porphyria
Paralysis OMIM:176200
Cockayne Syndrome B
Peripheral dysmyelination, Tremor, Ataxia, Patchy demyelination of subcortical white matter, Abno... OMIM:133540
Glossopharyngeal Neuralgia
Autoimmunity, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Vocal cord p... ORPHA:221098
Congenital Disorder Of Deglycosylation
Decreased sensory nerve conduction velocity, Delayed myelination, Facial hypotonia, Intrinsic han... OMIM:615273
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Cystic Fibrosis
Hepatomegaly, Decreased circulating antibody level, Biliary cirrhosis, Exocrine pancreatic insuff... ORPHA:586
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Lower limb spasticity, Delayed peripheral myelination, Progressive spastic paraplegia, Sp... ORPHA:464282
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Hemolytic anemia, Decreased specific anti-pol... OMIM:606367
Cockayne Syndrome Type 1
Tremor, Ataxia, Contractures involving the joints of the feet, Lower limb spasticity, Absent brai... ORPHA:90321
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Periodic hypokalemic... ORPHA:681
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Splenomegaly ORPHA:585
Cockayne Syndrome
Progressive gait ataxia, Hypertonia, Intention tremor, Demyelinating peripheral neuropathy, Ataxi... ORPHA:191
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis ORPHA:98827
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Machado-Joseph Disease Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abnormal pyram... ORPHA:276244
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ... ORPHA:35078
Paragangliomas 2
Vagal paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus jugular tumor, Glomus tympanicum ... OMIM:601650
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Leukodystrophy, T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memo... ORPHA:79124
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Paraparesis, Hypertonia, Chorea, Tetraparesis, Abnormal pyramidal... OMIM:607483
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Boutonneuse Fever
Increased circulating IgM level, Lymphadenopathy, Thrombocytopenia, Increased circulating IgG lev... ORPHA:83313
Immunodeficiency 36
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sple... OMIM:616005
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Splenomegaly, Decreased muscle mass, Decreased nerve conduction velocity OMIM:261515
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Neutropenia in presence of anti-neu... ORPHA:231154
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Juvenile rheum... ORPHA:275
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy, Spastic gait, Distal amyo... ORPHA:2821
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Brown-Vialetto-Van Laere Syndrome 1
Clumsiness, Knee clonus, Ataxia, Ankle clonus, Hand muscle atrophy, Facial palsy, Vocal cord para... OMIM:211530
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphope... OMIM:613179
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:256810
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Igg4-Related Aortitis
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449400
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Paralysis, Respiratory paralysis, Thrombocytopenia, Muscl... ORPHA:449285
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers OMIM:614116
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Leg ... OMIM:606693
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Leg muscle stiffness, Paraparesis, Hemiparesis, Paralysis, Progressiv... ORPHA:43
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Hypereosinophilia, Sp... OMIM:617388
Mucopolysaccharidosis Type 2
Macroglossia, Decreased nerve conduction velocity, Papilledema, Flexion contracture of digit, Ste... ORPHA:580
Spinocerebellar Ataxia Type 3
Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Progressive ce... ORPHA:98757
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
East Syndrome
Peripheral hypomyelination, Lower limb muscle weakness, Ataxia, Action tremor, Peripheral axonal ... ORPHA:199343
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Tibialis atrophy, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Ataxia, ... OMIM:302900
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Viral hepatitis, Increased circulating antibody level, Hepatocellular... ORPHA:2137
Choreoacanthocytosis
Hypertonia, Head titubation, Decreased number of peripheral myelinated nerve fibers, Abnormal ery... ORPHA:2388
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Skeletal muscle atrophy, Spasticity ORPHA:803
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Myasthenia Gravis
Autoimmunity, Facial palsy, Limb muscle weakness OMIM:254200
Cockayne Syndrome Type 3
Flexion contracture, Demyelinating peripheral neuropathy, Abnormal myelination, Splenomegaly, Per... ORPHA:90324
Stiff-Person Syndrome
Autoimmunity, Axial muscle stiffness, Proximal limb muscle stiffness, Opisthotonus, Exaggerated s... OMIM:184850
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis, Paraganglioma, Paraganglioma of head and... ORPHA:94080
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Oromotor apraxia, EEG with frontal focal spikes, EEG with parietal focal ... ORPHA:98889
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Hemolyti... OMIM:600903
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Limb muscle weakness, Paralysis, Skeletal muscle atrophy OMIM:612300
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Tremor, Decreased proportion of CD4-positive... OMIM:208900
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormality of extrapyramidal motor function, Paraparesis, Lower limb mu... ORPHA:2822
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Mental Retardation, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Arnold-Chiari Malformation Type I
Gait ataxia, Cranial nerve compression, Progressive cerebellar ataxia, Vocal cord paralysis, Abno... ORPHA:268882
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Rheum... OMIM:607944
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Paratracheal lymphadenopathy, Folli... OMIM:615934
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypsarrhythmia, Increased cup-to-disc ratio, Vocal cord paralysis, Myoclonus, Optic atrophy, Spas... ORPHA:500144
Machado-Joseph Disease Type 1
Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abnormal pyram... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Abnormal pyram... ORPHA:276241
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Igg4-Related Pachymeningitis
Paraparesis, Lower limb muscle weakness, Increased circulating IgG4 level, Abnormality of cervica... ORPHA:449427
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449432
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Lymphopenia ORPHA:90363
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Friedreich Ataxia 2
Abnormality of peripheral nerve conduction, Incoordination, Babinski sign, Ataxia OMIM:601992
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Hypertonia, Periodic hyperkalemic paralysis, Flexion contracture, Sk... ORPHA:682
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total ... OMIM:612301
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy, Ataxia, Intention tremor OMIM:612780
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Gm2-Gangliosidosis, Ab Variant
Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Exaggerated startle... OMIM:272750
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Vocal cord paralysi... OMIM:168000
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:230800
Bloom Syndrome
Decreased circulating total IgM, Leukemia, Decreased circulating IgG level, Decreased circulating... OMIM:210900
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Decreased circulating IgA level, Hypersplenism, Splenomega... OMIM:613385
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Paraparesis, Slurred speech, Limb ataxia, Low... OMIM:300100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-positive T cells,... ORPHA:508533
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Increased circulating IgM level, Interlobular bile duct destruction, Interface hepatit... ORPHA:562639
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopenia, Autoimmunity, Decreas... ORPHA:227990
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Decreased number of small peripheral myelinat... OMIM:256800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Cranial nerve compression, Parag... ORPHA:276621
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopenia, Autoimmunity, Decreas... ORPHA:227982
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Splenomegaly, Anemia, Incr... ORPHA:29073
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level, Abnormality of the thymus OMIM:208910
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Hypermobile Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Tendon rupture, Decreased nerve conduction ... ORPHA:285
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Lymphopenia, ... OMIM:615816
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Foodborne Botulism
Diaphragmatic paralysis, Cerebral palsy, Paralysis ORPHA:228371
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis OMIM:188580
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Facial muscle hypertrophy, Periodic hypokalemic paresis ORPHA:684
Thyrotoxic Periodic Paralysis
Tremor, Abnormal muscle fiber morphology, Periodic hypokalemic paresis, Increased intramyocellula... ORPHA:79102
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Dysgammaglobulinemia, B lymphoc... OMIM:251260
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fi... OMIM:223900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Glioblastoma
Paralysis ORPHA:360
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Limb ataxia, Hypertonia, Papilledema, Oculomotor apraxia, Paralysis, Pancytop... ORPHA:2072
Bohring-Opitz Syndrome
Camptodactyly, Flexion contracture, Delayed peripheral myelination OMIM:605039
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Tooth abscess, Anemia, Abnormality of perip... ORPHA:642
Neurofibromatosis, Familial Spinal
Paraparesis, Lower limb muscle weakness, Symmetric spinal nerve root neurofibromas OMIM:162210
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Decreased circulating IgA level, Splenomegaly OMIM:613327
Renal Tubular Acidosis, Distal, 1
Periodic hypokalemic paresis, Periodic paralysis OMIM:179800
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Optic nerve compression, Anemia, Hepa... OMIM:259730
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Decreased circulating IgA leve... OMIM:212065
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Abnormality of mesentery morphology, Retroperitoneal fibrosis, ... ORPHA:449395
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Friedreich Ataxia And Congenital Glaucoma
Decreased amplitude of sensory action potentials, Babinski sign, Ataxia OMIM:229310
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Inhalational Botulism
Paralysis ORPHA:254504
Porphyria, Acute Intermittent
Paralysis, Respiratory paralysis OMIM:176000
Bloom Syndrome
Recurrent tonsillitis, Abnormal proportion of CD8-positive T cells, Decreased circulating antibod... ORPHA:125
Farber Disease
Paraparesis, Flexion contracture, Thrombocytopenia, Myoclonus, Anemia, Skeletal muscle atrophy, H... ORPHA:333
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Generalized lymphadenopathy, De... ORPHA:420741
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Paralysis, Myoclonus, Ataxia OMIM:203700
Arnold-Chiari Malformation Type Ii
Paraparesis, Ataxia, Opisthotonus, Hand muscle atrophy, Upper limb muscle weakness, Paraplegia, S... ORPHA:1136
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis OMIM:613239
Gitelman Syndrome
Rhabdomyolysis, Paralysis, Ataxia OMIM:263800
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Hypertonia, Hemiparesis, Paralysis, Tetraplegia, Rigidity, Spasticity ORPHA:2396
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia OMIM:212750
Gitelman Syndrome
Iron deficiency anemia, Rhabdomyolysis, Hashimoto thyroiditis, Paralysis ORPHA:358
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309