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	chronic inflammatory demyelinating polyneuropathy

Disease ID	96
Disease	chronic inflammatory demyelinating polyneuropathy
Definition	A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition. (Adams et al., Principles of Neurology, 6th ed, p1337)
Synonym	chr inflam polyneuritis chronic inflamm demyelinating polyradiculoneuropathy chronic inflamm polyradiculoneuropathy chronic inflammatory demyelinating polyneuritis chronic inflammatory demyelinating polyneuritis (disorder) chronic inflammatory demyelinating polyneuropathy (disorder) chronic inflammatory demyelinating polyradiculoneuropathy chronic inflammatory demyelinating polyradiculoneuropathy (cidp) chronic inflammatory demyelinating polyradiculoneuropathy (disorder) chronic inflammatory polyradiculoneuropathies chronic inflammatory polyradiculoneuropathy chronic inflammatory polyradiculopathies chronic inflammatory polyradiculopathy cidp cidp (chronic inflammatory demyelinating polyneuropathy) cidp - chronic inflammatory demyelinating polyradiculoneuropathy inflamm polyradiculopathy chronic inflammatory polyradiculopathies, chronic inflammatory polyradiculopathy, chronic polyneuropathy, inflammatory demyelinating, chronic polyradiculoneuropathies, chronic inflammatory polyradiculoneuropathy chronic inflamm polyradiculoneuropathy chronic inflamm demyelinating polyradiculoneuropathy, chronic inflammatory polyradiculoneuropathy, chronic inflammatory demyelinating polyradiculoneuropathy, chronic inflammatory demyelinating [disease/finding] polyradiculopathies, chronic inflammatory polyradiculopathy, chronic inflammatory
Orphanet	ORPHANET:2932
DOID	DOID:5213 DOID:2536
ICD10	ICD10CM:G61.81
UMLS	C0393819
MeSH	D020277
SNOMED-CT	SNOMEDCT_US_2016_09_01:444728005;SNOMEDCT_US_2016_09_01:128209004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:33) C0011847 \| diabetes \| 7 C1136085 \| monoclonal gammopathy \| 3 C0442874 \| neuropathy \| 3 C0025202 \| melanoma \| 3 C0152025 \| polyneuropathy \| 2 C0026896 \| myasthenia gravis \| 2 C0036439 \| scoliosis \| 2 C0011849 \| diabetes mellitus \| 2 C0271355 \| sixth nerve palsy \| 1 C0235025 \| motor neuropathy \| 1 C0008312 \| biliary cirrhosis \| 1 C0002878 \| hemolytic anemia \| 1 C0017665 \| membranous nephropathy \| 1 C0008312 \| primary biliary cirrhosis \| 1 C0035258 \| restless legs syndrome \| 1 C0026846 \| muscle atrophy \| 1 C0010346 \| crohn's disease \| 1 C0242287 \| isaac's syndrome \| 1 C1527336 \| sjogren's syndrome \| 1 C0025202 \| malignant melanoma \| 1 C0011603 \| dermatitis \| 1 C0409974 \| lupus erythematosus \| 1 C0002170 \| alopecia \| 1 C1145670 \| respiratory failure \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0023890 \| cirrhosis \| 1 C0002736 \| amyotrophic lateral sclerosis \| 1 C0278883 \| metastatic melanoma \| 1 C0040034 \| thrombocytopenia \| 1 C0241910 \| autoimmune hepatitis \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0017658 \| glomerulonephritis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5376 \| PMP22 \| UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 627 \| BDNF \| CIPHER 10462 \| CLEC10A \| CIPHER 6900 \| CNTN2 \| CIPHER 1493 \| CTLA4 \| CIPHER 23095 \| KIF1B \| CIPHER 10718 \| NRG3 \| CIPHER 9047 \| SH2D2A \| CIPHER 6892 \| TAPBP \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 337 \| APOA4 \| 1.522 \| DISEASES 910 \| CD1B \| 1.91 \| DISEASES 959 \| CD40LG \| 4.259 \| DISEASES 966 \| CD59 \| 1.623 \| DISEASES 942 \| CD86 \| 3.321 \| DISEASES 7122 \| CLDN5 \| 2.761 \| DISEASES 1272 \| CNTN1 \| 4.54 \| DISEASES 5476 \| CTSA \| 1.145 \| DISEASES 1676 \| DFFA \| 1.505 \| DISEASES 356 \| FASLG \| 2.592 \| DISEASES 2214 \| FCGR3A \| 1.166 \| DISEASES 342035 \| GLDN \| 2.812 \| DISEASES 3240 \| HP \| 1.177 \| DISEASES 23308 \| ICOSLG \| 1.777 \| DISEASES 3456 \| IFNB1 \| 3.956 \| DISEASES 3605 \| IL17A \| 1.252 \| DISEASES 3563 \| IL3RA \| 1.15 \| DISEASES 3676 \| ITGA4 \| 1.231 \| DISEASES 4099 \| MAG \| 4.933 \| DISEASES 93487 \| MAPK1IP1L \| 4.032 \| DISEASES 4359 \| MPZ \| 3.304 \| DISEASES 4593 \| MUSK \| 1.161 \| DISEASES 23114 \| NFASC \| 5.022 \| DISEASES 51199 \| NIN \| 2.156 \| DISEASES 4897 \| NRCAM \| 1.899 \| DISEASES 4908 \| NTF3 \| 1.124 \| DISEASES 100506658 \| OCLN \| 1.638 \| DISEASES 23481 \| PES1 \| 1.253 \| DISEASES 5277 \| PIGA \| 1.223 \| DISEASES 5730 \| PTGDS \| 2.476 \| DISEASES 54476 \| RNF216 \| 2.906 \| DISEASES 9047 \| SH2D2A \| 3.962 \| DISEASES 126282 \| TNFAIP8L1 \| 3.282 \| DISEASES 7133 \| TNFRSF1B \| 1.305 \| DISEASES 7422 \| VEGFA \| 1.66 \| DISEASES
Locus	(Waiting for update.)

Disease ID	96
Disease	chronic inflammatory demyelinating polyneuropathy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:17) HP:0003551 \| Difficulty climbing stairs HP:0003401 \| Paresthesia HP:0002317 \| Unsteady gait HP:0003481 \| Segmental peripheral demyelination/remyelination HP:0010871 \| Sensory ataxia HP:0001284 \| Areflexia HP:0009830 \| Peripheral neuropathy HP:0030200 \| Fatiguable weakness of proximal limb muscles HP:0040129 \| Abnormal nerve conduction velocity HP:0003474 \| Sensory impairment HP:0002355 \| Difficulty walking HP:0002527 \| Falls HP:0030237 \| Hand muscle weakness HP:0010833 \| Spontaneous pain sensation HP:0011096 \| Peripheral demyelination HP:0000762 \| Decreased nerve conduction velocity HP:0012078 \| Motor conduction block
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:31) HP:0002861 \| Melanoma \| 3 HP:0000819 \| Diabetes mellitus \| 2 HP:0001271 \| Polyneuropathy \| 2 HP:0003473 \| Fatigable weakness \| 2 HP:0002664 \| Neoplasia \| 2 HP:0002650 \| Scoliosis \| 2 HP:0000099 \| Glomerular nephritis \| 1 HP:0007687 \| Unilateral ptosis \| 1 HP:0001337 \| Tremor \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0003447 \| Axonal loss \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0007354 \| Amyotrophic lateral sclerosis \| 1 HP:0011096 \| Demyelination \| 1 HP:0012578 \| Membranous glomerulonephritis \| 1 HP:0007178 \| Motor polyneuropathy \| 1 HP:0007418 \| Alopecia totalis \| 1 HP:0012534 \| Dysesthesia \| 1 HP:0001596 \| Hair loss \| 1 HP:0011349 \| Sixth nerve palsy \| 1 HP:0010871 \| Ataxia, sensory \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0001873 \| Low platelet count \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 1 HP:0002613 \| Biliary cirrhosis \| 1 HP:0006597 \| Paralyzed diaphragm \| 1

Disease ID	96
Disease	chronic inflammatory demyelinating polyneuropathy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:16) C2364118 \| weakness C2364051 \| fatigue C2029884 \| hearing loss C1510429 \| nerve entrapment syndrome C0742468 \| cns lesion C0587246 \| limb weakness C0271371 \| pupil-involving third nerve palsy C0242287 \| isaacs' syndrome C0155288 \| papilloedema C0152134 \| internuclear ophthalmoplegia C0151740 \| intracranial hypertension C0029132 \| optic neuropathy C0026272 \| mixed connective tissue disease C0022116 \| ischaemia C0017658 \| glomerulonephritis C0007286 \| carpal tunnel syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0017658 \| glomerulonephritis \| 1 C0004093 \| weakness \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs397514767	25818314	966	CD59	umls:C0393819	BeFree	The Cys89Tyr mutation in CD59 was clinically manifested in infancy, and associated with chronic hemolysis and relapsing peripheral demyelinating disease resembling recurrent Guillain-Barré syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP).	0.000271442	2015	CD59	11	33710247	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000762	Decreased nerve conduction velocity	MP:0008814	decreased nerve conduction velocity	decrease in the rate at which an electrical impulse travels through a nerve
HP:0002317	Unsteady gait	MP:0001406	abnormal gait	abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground
HP:0010871	Sensory ataxia	MP:0001393	ataxia	inability to coordinate voluntary muscular movements
HP:0003481	Segmental peripheral demyelination/remyelination	MP:0000958	peripheral nervous system degeneration	a retrogressive impairment of function or destruction of the ganglia and peripheral nerves that lie outside the brain and spinal cord

Mapped by homologous gene(Total Items:13)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0010871	Sensory ataxia	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0003551	Difficulty climbing stairs	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0011096	Peripheral demyelination	MP:0013438	dysmyelination	reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin
HP:0002355	Difficulty walking	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000762	Decreased nerve conduction velocity	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001284	Areflexia	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0009830	Peripheral neuropathy	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003474	Sensory impairment	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002527	Falls	MP:0014059	abnormal photoreceptor connecting cilium morphology	any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments
HP:0030237	Hand muscle weakness	MP:0011100	preweaning lethality, complete penetrance	death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
HP:0002317	Unsteady gait	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0003401	Paresthesia	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0003481	Segmental peripheral demyelination/remyelination	MP:0014062	nervous system inclusion bodies	nuclear or cytoplasmic aggregates of stainable substances within cells of the nervous system

Disease ID	96
Disease	chronic inflammatory demyelinating polyneuropathy
Case	(Waiting for update.)

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