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	giant axonal neuropathy

Disease ID	779
Disease	giant axonal neuropathy
Definition	Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).
Synonym	axonal neuropathy, giant axonal neuropathy, giant (gan) giant axonal neuropathy (disorder) giant axonal neuropathy (gan) giant axonal neuropathy 1 giant axonal neuropathy 1 (gan1) giant axonal neuropathy 1, autosomal recessive giant axonal neuropathy [disease/finding] neuropathy, giant axonal neuropathy, giant axonal (gan) neuropathy, giant axonal, autosomal recessive
Orphanet	ORPHANET:643
OMIM	OMIM:256850
UMLS	C1850386
MeSH	D056768
SNOMED-CT	SNOMEDCT_US_2016_09_01:128207002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0026848 \| myopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 8139 \| GAN \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:1) 1785 \| DNM2 \| 3.368 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) GAN \| 16q23.2

Disease ID	779
Disease	giant axonal neuropathy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:26) HP:0001317 \| Abnormality of the cerebellum HP:0002355 \| Difficulty walking HP:0010628 \| Facial palsy HP:0002527 \| Falls HP:0001290 \| Generalized hypotonia HP:0002224 \| Woolly hair HP:0003429 \| CNS hypomyelination HP:0003487 \| Babinski sign HP:0001257 \| Spasticity HP:0002235 \| Pili canaliculi HP:0001762 \| Talipes equinovarus HP:0005922 \| Abnormal hand morphology HP:0003690 \| Limb muscle weakness HP:0003701 \| Proximal muscle weakness HP:0002650 \| Scoliosis HP:0003405 \| Diffuse axonal swelling HP:0001284 \| Areflexia HP:0002857 \| Genu valgum HP:0001761 \| Pes cavus HP:0001249 \| Intellectual disability HP:0002936 \| Distal sensory impairment HP:0001382 \| Joint hypermobility HP:0002317 \| Unsteady gait HP:0012503 \| Abnormality of the pituitary gland HP:0005109 \| Abnormality of the Achilles tendon HP:0002460 \| Distal muscle weakness
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0003715 \| Myofibrillar changes \| 1 HP:0003198 \| Myopathic changes \| 1

Disease ID	779
Disease	giant axonal neuropathy
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs119485088	NA	8139	GAN	umls:C1850386	CLINVAR	NA	0.56434307	NA	GAN	16	81365432	G	A,C
rs119485089	NA	8139	GAN	umls:C1850386	CLINVAR	NA	0.56434307	NA	GAN	16	81365423	C	T
rs119485090	NA	8139	GAN	umls:C1850386	CLINVAR	NA	0.56434307	NA	GAN	16	81354723	C	T
rs119485091	NA	8139	GAN	umls:C1850386	CLINVAR	NA	0.56434307	NA	GAN	16	81365005	T	C
rs119485092	NA	8139	GAN	umls:C1850386	CLINVAR	NA	0.56434307	NA	GAN	16	81354535	G	A
rs119485093	NA	8139	GAN	umls:C1850386	CLINVAR	NA	0.56434307	NA	GAN	16	81315156	C	A
rs119485094	NA	8139	GAN	umls:C1850386	CLINVAR	NA	0.56434307	NA	GAN	16	81365405	C	T
rs119485095	NA	8139	GAN	umls:C1850386	CLINVAR	NA	0.56434307	NA	GAN	16	81354627	G	A
rs144486241	17578852	8139	GAN	umls:C1850386	UNIPROT	We report some unusual clinical features associated with GAN and Gigaxonin mutations as well as confirm the heterogeneity in GAN and the identification of two families with manifesting carriers.	0.56434307	2007	GAN	16	81357902	C	G,T

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

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

Mapped by lexical matching(Total Items:8)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003429	CNS hypomyelination	MP:0004998	decreased CNS synapse formation	a reduction in the frequency of the process of generating the initial connections between an axon and effector tissue or neuron
HP:0003690	Limb muscle weakness	MP:0000747	muscle weakness	loss of muscle strength
HP:0003701	Proximal muscle weakness	MP:0000748	progressive muscle weakness	increasing loss of muscle strength over time
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:0002224	Woolly hair	MP:0010685	abnormal hair follicle inner root sheath morphology	any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a
HP:0002936	Distal sensory impairment	MP:0000965	abnormal sensory neuron morphology	any structural anomaly of cells that innervate an effector (muscle or glandular) tissue and are responsible for transmission of sensory impulses
HP:0001290	Generalized hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0002460	Distal muscle weakness	MP:0000748	progressive muscle weakness	increasing loss of muscle strength over time

Mapped by homologous gene(Total Items:24)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002650	Scoliosis	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0005922	Abnormal hand morphology	MP:0012144	decreased b wave amplitude	reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram
HP:0002355	Difficulty walking	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001284	Areflexia	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002224	Woolly hair	MP:0014178	increased brain apoptosis	increase in the number of cells of the brain undergoing programmed cell death
HP:0001257	Spasticity	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001290	Generalized hypotonia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002857	Genu valgum	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
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:0003701	Proximal muscle weakness	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001317	Abnormality of the cerebellum	MP:0011971	increased circulating lactate dehydrogenase level	elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of ca
HP:0001761	Pes cavus	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003690	Limb muscle weakness	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001382	Joint hypermobility	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0003429	CNS hypomyelination	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003405	Diffuse axonal swelling	MP:0011965	decreased total retina thickness	decreased width of the retina through the center plane
HP:0002235	Pili canaliculi	MP:0013282	urinary bladder exstrophy	a herniation of the urinary bladder through an anterior abdominal wall defect; refers to congenital absence of a portion of the lower anterior abdominal wall and the anterior urinary bladder wall, with eversion of the posterior bladder wall through the de
HP:0001762	Talipes equinovarus	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0010628	Facial palsy	MP:0020240	increased skeletal muscle cell apoptosis	increase in the number of skeletal muscle cells undergoing programmed cell death
HP:0003487	Babinski sign	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002936	Distal 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:0002460	Distal muscle weakness	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye

Disease ID	779
Disease	giant axonal neuropathy
Case	(Waiting for update.)