MCID: CRB106
MIFTS: 41

Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Cerebellar Hypoplasia and Mental Retardation with or Without...

About this section
Sources:
50OMIM, 12diseasecard, 22GeneReviews, 23GeneTests, 24Genetics Home Reference, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 66UMLS, 2CDC, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

Name: Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 50 12
Dysequilibrium Syndrome 46 52 68 25 66
Vldlr-Associated Cerebellar Hypoplasia 22 23 24
Des 46 68 2
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 68 25
Cerebellar Disorder, Nonprogressive, with Mental Retardation 46 24
Dysequilibrium Syndrome-Vldlr 23 24
Vldlrch 46 24
Camrq1 23 68
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 24
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 1 68
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 24
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome 52
 
Congenital Cerebellar Ataxia and Mental Retardation Autosomal Recessive 68
Cerebellar Ataxia, Mental Retardation and Dysequilibrium Syndrome 1 23
Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome 52
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 24
Cerebellar Hypoplasia, Vldlr-Associated 24
Cerebellar Hypoplasia, Vldlr Associated 46
Cerebellar Hypoplasia Vldlr-Associated 68
Dialysis Disequilibrium Syndrome 66
Hutterite Ataxia 23
Camrq Syndrome 52
Des-Vldlr 24
Vldlr-Ch 24
Chmrq1 24

Characteristics:

Orphanet epidemiological data:

52
dysequilibrium syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset, nonprogressive


Classifications:



External Ids:

OMIM50 224050
Orphanet52 ORPHA1766
ICD10 via Orphanet29 G11.8
MESH via Orphanet38 C535731
UMLS via Orphanet67 C0394006
MedGen35 C0394006

Summaries for Cerebellar Hypoplasia and Mental Retardation with or Without...

About this section
Genetics Home Reference:24 VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. Children with VLDLR-associated cerebellar hypoplasia may learn to walk later in childhood, usually after the age of 6, although some are never able to walk independently. In one Turkish family, affected people walk on their hands and feet (quadrupedal locomotion).

MalaCards based summary: Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1, also known as dysequilibrium syndrome, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 and cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, and has symptoms including muscular hypotonia, gait disturbance and hyperreflexia. An important gene associated with Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 is VLDLR (Very Low Density Lipoprotein Receptor). Affiliated tissues include brain, cerebellum and lung, and related mouse phenotypes are pigmentation and vision/eye.

UniProtKB/Swiss-Prot:68 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1: A congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures.

OMIM:50 This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar... (224050) more...

Related Diseases for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Graphical network of diseases related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:



Diseases related to cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1

Symptoms for Cerebellar Hypoplasia and Mental Retardation with or Without...

About this section

Symptoms by clinical synopsis from OMIM:

224050

Clinical features from OMIM:

224050

Symptoms:

 52 (show all 14)
  • abnormality of the eye
  • strabismus
  • abnormality of vision
  • cataract
  • intellectual disability
  • seizures
  • ataxia
  • muscular hypotonia
  • gait disturbance
  • hyperreflexia
  • skeletal muscle atrophy
  • short stature
  • cerebral palsy
  • abnormality of movement

HPO human phenotypes related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

(show all 36)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 gait disturbance hallmark (90%) HP:0001288
3 hyperreflexia hallmark (90%) HP:0001347
4 incoordination hallmark (90%) HP:0002311
5 cognitive impairment hallmark (90%) HP:0100543
6 strabismus typical (50%) HP:0000486
7 seizures typical (50%) HP:0001250
8 skeletal muscle atrophy typical (50%) HP:0003202
9 short stature typical (50%) HP:0004322
10 hemiplegia/hemiparesis typical (50%) HP:0004374
11 cataract occasional (7.5%) HP:0000518
12 seizures rare (5%) HP:0001250
13 strabismus HP:0000486
14 cataract HP:0000518
15 gaze-evoked nystagmus HP:0000640
16 delayed speech and language development HP:0000750
17 intellectual disability HP:0001249
18 muscular hypotonia HP:0001252
19 dysarthria HP:0001260
20 global developmental delay HP:0001263
21 cerebellar atrophy HP:0001272
22 pachygyria HP:0001302
23 dysmetria HP:0001310
24 cerebellar hypoplasia HP:0001321
25 hyperreflexia HP:0001347
26 pes planus HP:0001763
27 abnormality of metabolism/homeostasis HP:0001939
28 gait ataxia HP:0002066
29 dysdiadochokinesis HP:0002075
30 truncal ataxia HP:0002078
31 intention tremor HP:0002080
32 broad-based gait HP:0002136
33 hypoplasia of the brainstem HP:0002365
34 poor speech HP:0002465
35 short stature HP:0004322
36 cortical gyral simplification HP:0009879

UMLS symptoms related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:


cerebellar ataxia, action tremor, dysdiadochokinesis, ataxia, truncal, dizziness and giddiness symptoms, equilibration disorder, gait ataxia, hyperemesis gravidarum, nausea, nausea and vomiting, vomiting, projectile vomiting, retching, acetonaemic vomiting, post-tussive vomiting, regurgitation, infantile vomiting

Drugs & Therapeutics for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Drugs for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcamprosatePhase 43877337-76-971158
Synonyms:
3-(Acetylamino)propanesulphonic acid
3-Acetamido-1-propanesulfonic acid
3-acetamidopropane-1-sulfonic acid
77337-70-3 (mono-hydrochloride salt)
77337-71-4 (mono-potassium salt)
77337-72-5 (mono-lithium salt)
77337-73-6 (calcium[2:1] salt)
77337-74-7 (magnesium[2:1] salt)
77337-76-9
AC1L2FNA
AC1Q1L6O
AC1Q6X8K
AOTA
AR-1H6082
Acamprosate
Acamprosate (INN)
Acamprosate 6473
Acamprosate [INN:BAN]
Acamprosato
Acamprosato [INN-Spanish]
Acamprosatum
 
Acamprosatum [INN-Latin]
Aotal
Aotal (TN)
C5H11NO4S
CHEBI:51041
CID71158
Campral
D07058
DB00659
EINECS 278-667-4
HSDB 7358
LS-120940
N-Acetylhomotaurine
N-acetyl homotaurine
UNII-N4K14YGM3J
acamprosate
acamprosate (Campral)
acamprostate
calcium acetyl homotaurinate
calcium acetylhomotaurinate
calcium acetylhomotaurine
sodium acetylhomotaurine
2
EthanolPhase 4197164-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
3
Proton pump inhibitorsPhase 2, Phase 31057
Synonyms:
 
PPIs
4
DexlansoprazolePhase 2, Phase 3204138530-94-6, 103577-45-39578005
Synonyms:
138530-94-6
CHEMBL1201863
CID9578005
D08903
Dexlansoprazole (INN/USAN)
KS-1075
 
Kapidex
MolPort-002-885-834
T 168390
TAK 390
UNII-UYE4T5I70X
ZINC00599734
dexlansoprazole
5
LansoprazolePhase 2, Phase 3204103577-45-33883
Synonyms:
103577-45-3
2-(((3-Methyl-4-(2,2,2-trifluoroethoxy)-2-pyridinyl)methyl)sulfinyl)-1H-benzimidazole
2-(((3-Methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl)methyl)sulfinyl)benzimidazole
2-(((3-methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl)methyl)sulfinyl)-1H-benzimidazole
2-({[3-methyl-4-(2,2,2-trifluoroethoxy)pyridin-2-yl]methyl}sulfinyl)-1H-benzimidazole
2-[({3-methyl-4-[(2,2,2-trifluoroethyl)oxy]pyridin-2-yl}methyl)sulfinyl]-1H-benzimidazole
2-[[3-methyl-4-(2,2,2-trifluoroethoxy)pyridin-2-yl]methylsulfinyl]-1H-benzimidazole
2-[[[3-methyl-4-(2,2,2-trifluoroethoxy)-2-pyridyl] methyl] sulfinyl] benzimidazole
2-[[[3-methyl-4-(2,2,2-trifluroethoxy)-2-pyridyl]methyl]sulfinyl]benzimidazole
A 65006
A-65006
AB00052388
ABT-006
AC1L1GX8
AG 1749
AG-1749
Abbot Brand of Lansoprazole
Agopton
Almirall Brand of Lansoprazole
Amarin
Aprazol
BIDD:GT0006
BPBio1_001194
BRD-A49172652-001-05-7
BRN 4333393
BSPBio_001084
BSPBio_001830
Bamalite
Bio-0824
Biuret
Biuret Gr
Biuret Reagent
Biuret Reagent Solution
Blason
C058687
C16H14F3N3O2S
CAS-103577-45-3
CG-4801
CHEBI:6375
CHEMBL480
CID3883
CPD000058469
Compraz
D00355
DB00448
Dakar
DivK1c_000920
EU-0100709
FT-0082011
HMS1571G06
HMS1922M04
HMS2052F05
HMS2093M07
HMS502N22
HSDB 7204
Hoechst Brand of Lansoprazole
Hormona Brand of Lansoprazole
I06-0018
IDI1_000920
Ilsatec
KBio1_000920
KBio2_002060
KBio2_004628
KBio2_007196
KBio3_001330
KBioGR_001491
KBioSS_002060
Ketian
L 8533
L8533_SIGMA
LS-33080
Lancid
Lanfast
Lanproton
Lansopep
Lansophed
Lansoprazol
Lansoprazol [INN-Spanish]
Lansoprazole
Lansoprazole (JAN/USP/INN)
Lansoprazole [USAN:BAN:INN]
Lansoprazole [Usan:Ban:Inn]
Lansoprazolum
Lansoprazolum [INN-Latin]
Lansox
Lanston
 
Lanz
Lanzo
Lanzol
Lanzol-30
Lanzopral
Lanzor
Lanzul
Lapraz
Lasoprol
Lederle Brand of Lansoprazole
Limpidex
Linamarin
Lopac-L-8533
Lopac0_000709
MLS-0003247.0001
MLS000069705
MLS000759405
MLS001074170
Mesactol
MolPort-003-666-508
MolPort-006-394-760
Monolitum
NCGC00015615-01
NCGC00015615-02
NCGC00015615-03
NCGC00015615-06
NCGC00015615-11
NCGC00023826-03
NCGC00023826-04
NCGC00023826-05
NCGC00023826-06
NCGC00023826-07
NINDS_000920
Ogast
Ogastro
Opiren
Prestwick0_001072
Prestwick1_001072
Prestwick2_001072
Prestwick3_001072
PrevOnco
Prevacid
Prevacid (TN)
Prevacid I.V
Prevacid I.V.
Prevacid Iv
Prevacid SoluTab
Prevacid Solutab
Prevacid, Prevacid NapraPAC, Prevacid SoluTab, Lansoprazole
Prevpac
Prezal
Pro Ulco
Promeco
Promeco Brand of Lansoprazole
Promp
Prosogan
S1354_Selleck
SAM001246544
SMR000058469
SPBio_000488
SPBio_002992
SPECTRUM1503926
STK621169
Salvar Brand of Lansoprazole
Spectrum2_000444
Spectrum3_000295
Spectrum4_000856
Spectrum5_001521
Spectrum_001580
Suprecid
TAK 390MR
TAK-390MR
TAK390MR
TAP Brand of Lansoprazole
TL8000155
Takeda Brand of Lansoprazole
Takepron
Tecnobio Brand of Lansoprazole
UNII-0K5C5T2QPG
Ulpax
Vinas Brand of Lansoprazole
Wyeth Brand of Lansoprazole
Zoprol
Zoton
lansoprazole
lansoprazole sulphone
lanzoprazole
6
PrednisonePhase 2131853-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
 
Juvason
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
7glucocorticoidsPhase 24756
8
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
9insulin4401
10
Folic AcidNutraceutical414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
11FolateNutraceutical4143

Interventional clinical trials:

(show all 23)
idNameStatusNCT IDPhase
1Acamprosate: Genes Associated With ResponseCompletedNCT00662571Phase 4
2Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele SurgeryNot yet recruitingNCT02719093Phase 4
3Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 MutationRecruitingNCT00789061Phase 2, Phase 3
4A Randomized Controlled Single-Blind Study of the Effects of Instrument-Applied Spinal Manipulative Therapy on Postural ControlCompletedNCT00521469Phase 2
5Prednisone Treatment for Vestibular NeuronitisCompletedNCT00271791Phase 2
6Evaluation of a Sensory Enrichment Multimodal Device (SEMD) on Physical Therapy Patients With DisequilibriumCompletedNCT01483937
7Mapping of End Stage Renal Disease Genetic Susceptibility in African Americans by Admixture Linkage DisequilibriumCompletedNCT00559767
8Vestibular Evoked Myogenic Potentials in Benign Paroxysmal Positional Vertigo (VEMP in BPPV)CompletedNCT01004913
9Recovery of Visual Acuity in People With Vestibular DeficitsCompletedNCT00411216
10Obesity, Physical Inactivity or Dietary Fat ?CompletedNCT00434265
11Automatic Adaptive System Dialysis (AASD)CompletedNCT01241994
12Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish PopulationCompletedNCT00341068
13Genetic Susceptibility to Childhood Respiratory IIlness in Mexico CityCompletedNCT00339521
14Immunogenetics of Visceral LeishmaniasisCompletedNCT00342823
15Investigation of Genetic Disease Marker Associated With Korean Glaucoma PatientsCompletedNCT01025024
16Multichannel Vestibular Implant Early Feasibility StudyRecruitingNCT02725463
17Genetic Epidemiology of Lung CancerRecruitingNCT00341835
18Scleroderma RegistryRecruitingNCT00074568
19Interval Training and Hormones in Chronic Heart FailureRecruitingNCT02322034
20Study of the Role Des Fc Gamma Receptors in Immune Thrombocytopenic Purpura (ITP)RecruitingNCT02821572
21Family Investigation of Nephropathy and Diabetes (F.I.N.D.)RecruitingNCT00342927
22Characterisation of Cortical Vestibular Evoked Potentials (C-VEPs)RecruitingNCT02463695
23Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1)Active, not recruitingNCT00111384

Search NIH Clinical Center for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1

Genetic Tests for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Genetic tests related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

id Genetic test Affiliating Genes
1 Dysequilibrium Syndrome25
2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 125
3 Vldlr-Associated Cerebellar Hypoplasia23 VLDLR

Anatomical Context for Cerebellar Hypoplasia and Mental Retardation with or Without...

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MalaCards organs/tissues related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

34
Brain, Cerebellum, Lung, Skeletal muscle, Heart, Eye

Animal Models for Cerebellar Hypoplasia and Mental Retardation with or Without... or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5ATP8A2, VLDLR
2MP:00053918.4ATP8A2, VLDLR, WDR81
3MP:00036318.0ATP8A2, CA8, VLDLR, WDR81
4MP:00053868.0ATP8A2, CA8, VLDLR, WDR81
5MP:00053787.7ATP8A2, CA8, VLDLR, WDR81

Publications for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Variations for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Clinvar genetic disease variations for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NG_012741.1: g.(?_5001)_(37693_?)deldeletionPathogenicGRCh37Chr 9, 2621793: 2654485
2VLDLRNM_003383.4(VLDLR): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs80338907GRCh37Chr 9, 2643480: 2643480
3VLDLRNM_003383.4(VLDLR): c.2339delT (p.Ile780Thrfs)deletionPathogenicrs80338906GRCh37Chr 9, 2651877: 2651877
4VLDLRNM_003383.4(VLDLR): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs80338905GRCh37Chr 9, 2645603: 2645603
5VLDLRNM_003383.4(VLDLR): c.1247_1253delGTTACAA (p.Tyr417Valfs)deletionPathogenicrs398122380GRCh37Chr 9, 2645017: 2645023
6VLDLRNM_003383.4(VLDLR): c.2117G> T (p.Cys706Phe)single nucleotide variantPathogenicrs397514750GRCh37Chr 9, 2650382: 2650382

Expression for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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Search GEO for disease gene expression data for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1.

Pathways for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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GO Terms for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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Sources for Cerebellar Hypoplasia and Mental Retardation with or Without...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet