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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   alexander disease
  

Disease ID 218
Disease alexander disease
Definition
A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity.
Synonym
alexander disease [disease/finding]
alexander's disease
alexander's disease (disorder)
alexanders disease
alxdrd
demyelinogenic leukodystrophy
dysmyelinogenic leukodystrophy
fibrinoid degeneration of astrocytes
fibrinoid leukodystrophy
leukodystrophy with rosenthal fibers
Orphanet
OMIM
DOID
UMLS
C0270726
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0270612  |  leukoencephalopathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
4723  |  NDUFV1  |  CTD_human;UNIPROT
2670  |  GFAP  |  CLINVAR;CTD_human;GHR;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:30)
199  |  AIF1  |  1.892  |  DISEASES
631  |  BFSP1  |  2.734  |  DISEASES
1282  |  COL4A1  |  1.759  |  DISEASES
8450  |  CUL4B  |  2.517  |  DISEASES
1654  |  DDX3X  |  2.04  |  DISEASES
1785  |  DNM2  |  1.929  |  DISEASES
2170  |  FABP3  |  1.195  |  DISEASES
2571  |  GAD1  |  1.147  |  DISEASES
2730  |  GCLM  |  1.987  |  DISEASES
57165  |  GJC2  |  2.129  |  DISEASES
152007  |  GLIPR2  |  3.46  |  DISEASES
10013  |  HDAC6  |  1.402  |  DISEASES
3083  |  HGFAC  |  1.996  |  DISEASES
3316  |  HSPB2  |  4.75  |  DISEASES
5654  |  HTRA1  |  1.608  |  DISEASES
3064  |  HTT  |  1.465  |  DISEASES
3766  |  KCNJ10  |  1.678  |  DISEASES
3908  |  LAMA2  |  1.488  |  DISEASES
9211  |  LGI1  |  1.306  |  DISEASES
5599  |  MAPK8  |  1.31  |  DISEASES
5601  |  MAPK9  |  1.254  |  DISEASES
2475  |  MTOR  |  1.737  |  DISEASES
4723  |  NDUFV1  |  2.75  |  DISEASES
10763  |  NES  |  1.553  |  DISEASES
54413  |  NLGN3  |  2.413  |  DISEASES
5339  |  PLEC  |  3.525  |  DISEASES
5730  |  PTGDS  |  1.594  |  DISEASES
1827  |  RCAN1  |  1.762  |  DISEASES
6663  |  SOX10  |  1.231  |  DISEASES
23336  |  SYNM  |  2.958  |  DISEASES
Locus(Waiting for update.)
Disease ID 218
Disease alexander disease
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:67)
HP:0000639  |  Nystagmus
HP:0001274  |  Agenesis of corpus callosum
HP:0000470  |  Short neck
HP:0100716  |  Self-injurious behavior
HP:0004481  |  Progressively abnormally enlarging cranium
HP:0000496  |  Abnormality of eye movement
HP:0000826  |  Precocious puberty
HP:0002015  |  Dysphagia
HP:0007256  |  Abnormal pyramidal signs
HP:0002019  |  Constipation
HP:0002376  |  Loss of developmental milestones
HP:0010628  |  Facial palsy
HP:0002376  |  Developmental regression
HP:0000218  |  High palate
HP:0002072  |  Chorea
HP:0007162  |  Diffuse demyelination of the cerebral white matter
HP:0100729  |  Large face
HP:0001355  |  Megalencephaly
HP:0002383  |  Encephalitis
HP:0000508  |  Ptosis
HP:0001260  |  Dysarthria
HP:0100247  |  Recurrent singultus
HP:0001257  |  Spasticity
HP:0001251  |  Ataxia
HP:0002007  |  Frontal bossing
HP:0003307  |  Hyperlordosis
HP:0002167  |  Neurological speech impairment
HP:0002615  |  Hypotension
HP:0000822  |  Hypertension
HP:0002017  |  Nausea and vomiting
HP:0007481  |  Hyperpigmented nevi
HP:0002353  |  EEG abnormality
HP:0001250  |  Seizures
HP:0001618  |  Dysphonia
HP:0000975  |  Hyperhidrosis
HP:0002483  |  Bulbar signs
HP:0001288  |  Gait disturbance
HP:0000256  |  Macrocephaly
HP:0002093  |  Respiratory insufficiency
HP:0002607  |  Bowel incontinence
HP:0002445  |  Tetraplegia
HP:0002650  |  Scoliosis
HP:0002169  |  Clonus
HP:0000938  |  Osteopenia
HP:0002514  |  Cerebral calcification
HP:0002808  |  Kyphosis
HP:0001508  |  Failure to thrive
HP:0000651  |  Diplopia
HP:0000712  |  Emotional lability
HP:0002360  |  Sleep disturbance
HP:0001249  |  Intellectual disability
HP:0002459  |  Dysautonomia
HP:0002045  |  Hypothermia
HP:0001645  |  Sudden cardiac death
HP:0001324  |  Muscle weakness
HP:0001347  |  Hyperreflexia
HP:0001337  |  Tremor
HP:0002357  |  Dysphasia
HP:0002410  |  Aqueductal stenosis
HP:0000819  |  Diabetes mellitus
HP:0000238  |  Nonsyndromal hydrocephalus
HP:0002922  |  Increased CSF protein
HP:0000716  |  Depression
HP:0010535  |  Sleep apnea
HP:0001252  |  Muscular hypotonia
HP:0000238  |  Hydrocephalus
HP:0000821  |  Hypothyroidism
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:7)
Disease ID 218
Disease alexander disease
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C2364324  |  increased intracranial pressure
C0700208  |  scoliosis
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Manually Genotypes:1)
Gene Mutation DOI Article Title
GFAPChr17:g.42990701C>T, heterozygous;NM_001131019.2, NP_001124491.1;c.716G>A, p.(Arg239His)doi:10.1038/gim.2016.1A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:109)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs112611995NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913433GC
rs121909717186850832670GFAPumls:C0270726BeFreeIndeed, two other assembly-compromised GFAP constructs, namely enhanced green fluorescent protein (eGFP)-tagged GFAP and the Alexander disease-causing GFAP mutant, R416W GFAP both showed similar in vitro assembly characteristics to GFAP-delta and could also be incorporated into endogenous filament networks in transfected cells, providing expression levels were kept low.0.526546942008GFAP1744908075GT,A
rs121909717168265122670GFAPumls:C0270726BeFreeCollectively, these data confirm that the effects of the R416W GFAP are dominant, changing the assembly process in a way that encourages aberrant filament-filament interactions that then lead to protein aggregation and chaperone sequestration as early events in Alexander disease.0.526546942006GFAP1744908075GT,A
rs121909717247429112670GFAPumls:C0270726BeFreeThe child was found to harbor the R416W mutation, one of the most prevalent mutations in the glial fibrillary acidic protein (GFAP) gene that causes Alexander disease.0.526546942014GFAP1744908075GT,A
rs121909717NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744908075GT,A
rs121909717145509212670GFAPumls:C0270726BeFreeA case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation.0.526546942003GFAP1744908075GT,A
rs121909718NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911277CG
rs121909719NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911751CA
rs121909720NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915253GT
rs267607500NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913430CT,G
rs267607501NA2670GFAPumls:C0270726CLINVARNA0.52654694NANANANANANA
rs267607502NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911266TC
rs267607503NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911272GA
rs267607504NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915266AG
rs267607505179608152670GFAPumls:C0270726BeFreeA novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult-onset Alexander disease.0.526546942008GFAP1744913279TC
rs267607505NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913279TC
rs267607506NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915240AG
rs267607507NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913733CT
rs267607508NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744908128GT
rs267607509NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915105CT
rs267607510NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915278CT
rs267607511NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911287AG
rs267607512NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911237GC,A
rs267607513NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911375GC
rs267607514NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911369CT
rs267607515NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911293AT,G
rs267607516NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915185AG
rs267607517NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744910638GT,A
rs267607518NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915228CG,A
rs267607518218229332670GFAPumls:C0270726BeFreeLate-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.0.526546942012GFAP1744915228CG,A
rs267607519NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913310AG
rs267607520NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744908071TG
rs267607521NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744907369TA
rs267607523NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915273CT
rs267607525NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913342TG
rs267607526NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911252CG
rs28932768120347962670GFAPumls:C0270726UNIPROTJuvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.0.526546942002NANANANANA
rs28932769NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911308AG
rs56679084NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913382CG
rs57120761NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915261GC,A
rs57120761233643912670GFAPumls:C0270726UNIPROTFollow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.0.526546942013GFAP1744915261GC,A
rs57590980NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915257TC
rs57661783NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913421CT,A
rs57815192NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911251TC,A
rs58008462NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911267AG
rs58064122233643912670GFAPumls:C0270726UNIPROTFollow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.0.526546942013GFAP1744913334GA
rs58064122NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913334GA
rs58075601NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911246CT,G
rs58536923NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911743TC
rs58645997NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911273CG
rs58732244NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915258TA
rs58732244115672142670GFAPumls:C0270726UNIPROTInfantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.0.526546942001GFAP1744915258TA
rs59285727233643912670GFAPumls:C0270726UNIPROTFollow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.0.526546942013GFAP1744915251CT,G,A
rs59285727NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915251CT,G,A
rs59565950233643912670GFAPumls:C0270726UNIPROTFollow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.0.526546942013GFAP1744913333CT,G,A
rs59565950173831332670GFAPumls:C0270726BeFreeR239H mutation of glial fibrillary acidic protein gene was identified, representing a common cause of infantile-type Alexander disease.0.526546942007GFAP1744913333CT,G,A
rs59565950NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913333CT,G,A
rs59568967NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915197AG
rs59628143NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911242TC
rs59661476150309112670GFAPumls:C0270726BeFreeA case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.0.526546942004GFAP1744915218AG
rs59661476NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915218AG
rs59793293NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915252GT,C,A
rs59793293233643912670GFAPumls:C0270726UNIPROTFollow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.0.526546942013GFAP1744915252GT,C,A
rs59793293185849812670GFAPumls:C0270726BeFreeWe report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation.0.526546942009GFAP1744915252GT,C,A
rs59985777NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911371AG
rs60095124NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915300TG
rs60269890NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913345AG
rs60343255NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915279GA
rs60449251NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915227AC
rs60551555NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913325AC
rs60551555240032212670GFAPumls:C0270726BeFreeBecause K8 Tyr-267 is conserved in many IFs (QYE motif), we tested the effect of the paralogous Tyr in glial fibrillary acidic protein (GFAP), which is mutated in Alexander disease (Y242D).0.526546942013GFAP1744913325AC
rs60551555240032213856KRT8umls:C0270726BeFreeBecause K8 Tyr-267 is conserved in many IFs (QYE motif), we tested the effect of the paralogous Tyr in glial fibrillary acidic protein (GFAP), which is mutated in Alexander disease (Y242D).0.0002714422013GFAP1744913325AC
rs60825166NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911288GC
rs61060395NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915269AT,C
rs61497286NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913318GA
rs61622935NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915225GT,A
rs61622935233643912670GFAPumls:C0270726UNIPROTFollow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.0.526546942013GFAP1744915225GT,A
rs61726468NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913276CT,G
rs61726468111380112670GFAPumls:C0270726UNIPROTMutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.0.526546942001GFAP1744913276CT,G
rs61726470NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913291GC
rs61726471NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744910629TA
rs62635764NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744908143CA
rs62636501NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911284TA
rs748860341NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744910143CG,T
rs763868966NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911429CA,T
rs797044569NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915290CT
rs797044570NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915282CT
rs797044571NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915255CT
rs797044572NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915248AG
rs797044573NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915231TC
rs797044574NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915209TG
rs797044575NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915113-GCCGCAGCT
rs797044576NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744915106-AGCCGC
rs797044577NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913357AT
rs797044578NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744913277GA
rs797044579NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911787AG
rs797044580NA2670GFAPumls:C0270726CLINVARNA0.52654694NANANANANANA
rs797044581NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911779CG
rs797044582NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911775GT
rs797044583NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911710GC
rs797044584NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911315-CAAGTG
rs797044585NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911312CG
rs797044586NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911290GA
rs797044587NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911289GC
rs797044588NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911278TC
rs797044589NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744911245TG
rs797044590NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744910632GC,A
rs797044591NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744908072C-
rs797044592NA2670GFAPumls:C0270726CLINVARNA0.52654694NAGFAP1744910133CAGCTAACGAT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:13)
HP ID HP Name MP ID MP Name Annotation
HP:0007162Diffuse demyelination of the cerebral white matterMP:0008026abnormal brain white matter morphologyany structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites
HP:0007256Abnormal pyramidal signsMP:0009940abnormal hippocampus pyramidal cell morphologyany structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from
HP:0000218High palateMP:0011615submucous cleft palatea cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate
HP:0001274Agenesis of corpus callosumMP:0013808abnormal tunnel of Corti morphologyany structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti
HP:0000470Short neckMP:0012720elongated neckincreased length of the neck
HP:0001508Failure to thriveMP:0013294prenatal lethality prior to heart atrial septationdeath prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0002922Increased CSF proteinMP:0008469abnormal protein levelanomaly in the amount of any of the macromolecules consisting of long chains of amino acids in peptide linkage
HP:0000496Abnormality of eye movementMP:0012287increased frequency of paradoxical sleepincreased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity
HP:0100716Self-injurious behaviorMP:0009848increased horizontal stereotypic behaviorincrease in the frequency of repetitive rearings (greater than one per second)
HP:0001324Muscle weaknessMP:0000746weaknessstate of being infirm or less strong than normal
HP:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0001645Sudden cardiac deathMP:0012557decreased calcium uptake by cardiac muscledecreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease
HP:0002017Nausea and vomitingMP:0010426abnormal heart and great artery attachmentany anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
Mapped by homologous gene(Total Items:64)
HP ID HP Name MP ID MP Name Annotation
HP:0001252Muscular hypotoniaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002650ScoliosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0007162Diffuse demyelination of the cerebral white matterMP:0010875increased bone volumeincreased amount of space occupied by bone tissue in the skeleton
HP:0000508PtosisMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0003307HyperlordosisMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002015DysphagiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002353EEG abnormalityMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001288Gait disturbanceMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001347HyperreflexiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002445TetraplegiaMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0000238HydrocephalusMP:0020080increased bone mineralizationincrease in the rate at which minerals are deposited into bone
HP:0002360Sleep disturbanceMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0000712Emotional labilityMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002093Respiratory insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002483Bulbar signsMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001257SpasticityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001508Failure to thriveMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0000819Diabetes mellitusMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001337TremorMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001618DysphoniaMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0000938OsteopeniaMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002410Aqueductal stenosisMP:0014185cerebellum atrophyacquired 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:0001260DysarthriaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000821HypothyroidismMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0002017Nausea and vomitingMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002459DysautonomiaMP:0020187altered susceptibility to prion infectionaltered 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:0002169ClonusMP:0013401increased endometrial gland numbergreater than normal numbers of the simple or branched tubular glands found in the mucus membrane of the uterus
HP:0001324Muscle weaknessMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000651DiplopiaMP:0020187altered susceptibility to prion infectionaltered 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:0100716Self-injurious behaviorMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000975HyperhidrosisMP:0020187altered susceptibility to prion infectionaltered 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:0007256Abnormal pyramidal signsMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002383EncephalitisMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0000826Precocious pubertyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000470Short neckMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002045HypothermiaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002376Developmental regressionMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001645Sudden cardiac deathMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001251AtaxiaMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0000218High palateMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000639NystagmusMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002607Bowel incontinenceMP:0013438dysmyelinationreduced 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:0002514Cerebral calcificationMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002922Increased CSF proteinMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0001355MegalencephalyMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0002167Neurological speech impairmentMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0100729Large faceMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001274Agenesis of corpus callosumMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000496Abnormality of eye movementMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0010628Facial palsyMP:0020240increased skeletal muscle cell apoptosisincrease in the number of skeletal muscle cells undergoing programmed cell death
HP:0002072ChoreaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002615HypotensionMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000256MacrocephalyMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000716DepressionMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002019ConstipationMP:0020234decreased basal metabolismdecrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0002808KyphosisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002357DysphasiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0004481Progressive macrocephalyMP:0014171increased fatty acid oxidationincreased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002007Frontal bossingMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0010535Sleep apneaMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0000822HypertensionMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0100247Recurrent singultusMP:0011380enlarged brain ventriclesincreased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord
Disease ID 218
Disease alexander disease
Case(Waiting for update.)