HLD7
MCID: LKD017
MIFTS: 52

Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (HLD7)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

Name: Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 57 74 13
Leukodystrophy with Oligodontia 12 59 74
Hld7 57 12 74
Hypomyelinating Leukodystrophy 7 with or Without Oligodontia and-or Hypogonadotropic Hypogonadism 12 15
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 57 72
Hypomyelination-Cerebellar Atrophy-Hypoplasia of the Corpus Callosum Syndrome 12 59
Tremor-Ataxia-Central Hypomyelination Syndrome 12 59
Dentoleukoencephalopathy 12 59
Tach Syndrome 12 59
Addh 57 74
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism 4h Syndrome 74
Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome 59
Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition 57
Ataxia-Delayed Dentition-Hypomyelination Syndrome; Odontoleukodystrophy 12
Leukoencephalopathy Hypomyelinating with Ataxia and Delayed Dentition 74
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome 12
Ataxia, Delayed Dentition, and Hypomyelination; Addh 57
Ataxia-Delayed Dentition-Hypomyelination Syndrome 59
Leukodystrophy, Dysmyelinating, with Oligodontia 72
Ataxia, Delayed Dentition, and Hypomyelination 57
Ataxia Delayed Dentition and Hypomyelination 74
Tremor-Ataxia with Central Hypomyelination 74
Attention Deficit Hyperactivity Disorder 72
Odontoleukodystrophy 59
4h Syndrome 57
Tach 74

Characteristics:

Orphanet epidemiological data:

59
hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
tremor-ataxia-central hypomyelination syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: adult;
hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;
odontoleukodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
progressive disorder
onset in childhood (range 1 to 12 years)
many patients become wheelchair-bound by second or third decade


HPO:

32
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0060794
MeSH 44 D020279
ICD10 33 G11.1
ICD10 via Orphanet 34 E75.2
UMLS via Orphanet 73 C2676243 C3502054
MedGen 42 C2676243
UMLS 72 C1263846 C2676243 C3502054

Summaries for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

OMIM : 57 Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability (summary by Bernard et al., 2011). See also HLD8 (614381), which has similar features and is caused by mutation in the POLR3B gene (614366) on chromosome 12q23. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III. For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (607694)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism, also known as leukodystrophy with oligodontia, is related to hypogonadism and hypomyelinating leukoencephalopathy, and has symptoms including seizures, ataxia and tremor. An important gene associated with Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism is POLR3A (RNA Polymerase III Subunit A), and among its related pathways/superpathways is Cytosolic sensors of pathogen-associated DNA. The drugs Reboxetine and Sertraline have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are delayed puberty and nystagmus

Disease Ontology : 12 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.

UniProtKB/Swiss-Prot : 74 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism: An autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability.

Related Diseases for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

Diseases in the Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism family:

Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism

Diseases related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 hypogonadism 30.4 POLR3B POLR3A
2 hypomyelinating leukoencephalopathy 30.1 POLR3B POLR3A
3 hypomyelinating leukodystrophy 28.9 POLR3B POLR3A AIMP1
4 leukodystrophy 28.3 PSAP POLR3B POLR3A AIMP1
5 polr3-related leukodystrophy 12.0
6 attention deficit-hyperactivity disorder 11.6
7 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.3
8 boutonneuse fever 10.4
9 hypogonadotropic hypogonadism 10.4
10 hypogonadotropism 10.4
11 spotted fever 10.4
12 conduct disorder 10.3
13 depression 10.3
14 exanthem 10.3
15 ataxia and polyneuropathy, adult-onset 10.2
16 african tick-bite fever 10.2
17 tremor 10.2
18 asperger syndrome 10.2
19 dyslexia 10.2
20 learning disability 10.2
21 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.0
22 sarcoidosis 1 10.0
23 triiodothyronine receptor auxiliary protein 10.0
24 yemenite deaf-blind hypopigmentation syndrome 10.0
25 birdshot chorioretinopathy 10.0
26 rocky mountain spotted fever 10.0
27 q fever 10.0
28 ornithosis 10.0
29 keratomalacia 10.0
30 choroiditis 10.0
31 ichthyosis 10.0
32 night blindness 10.0
33 vasculitis 10.0
34 chorioretinitis 10.0
35 pityriasis rosea 10.0
36 meningitis 10.0
37 multifocal choroiditis 10.0
38 neonatal meningitis 10.0
39 pityriasis rotunda 10.0
40 spasticity 10.0
41 posttransplant acute limbic encephalitis 10.0
42 gordon holmes syndrome 9.9
43 3-methylglutaconic aciduria, type iii 9.9
44 aceruloplasminemia 9.9
45 autosomal recessive disease 9.9
46 dystonia 9.9
47 peripheral nervous system disease 9.9
48 cataract 9.9
49 neuropathy 9.9
50 pathologic nystagmus 9.9

Graphical network of the top 20 diseases related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:



Diseases related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

Human phenotypes related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 59 32 hallmark (90%) Frequent (79-30%) HP:0000823
2 nystagmus 59 32 occasional (7.5%) Frequent (79-30%) HP:0000639
3 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
6 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
7 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
8 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
9 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
10 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
11 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
12 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
13 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
14 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
15 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
16 cerebellar hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001321
17 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
18 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
19 postural tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002174
20 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
21 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
22 vertical supranuclear gaze palsy 59 32 frequent (33%) Frequent (79-30%) HP:0000511
23 cns hypomyelination 59 32 frequent (33%) Frequent (79-30%) HP:0003429
24 oligodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000677
25 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
26 abnormality of ocular smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0000617
27 abnormality of the basal ganglia 59 32 frequent (33%) Frequent (79-30%) HP:0002134
28 autonomic bladder dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0005341
29 positive romberg sign 59 32 frequent (33%) Frequent (79-30%) HP:0002403
30 high myoinositol in brain by mrs 59 32 frequent (33%) Frequent (79-30%) HP:0025460
31 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
32 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
33 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
34 impaired vibration sensation in the lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002166
35 drooling 59 32 occasional (7.5%) Occasional (29-5%) HP:0002307
36 impaired distal proprioception 59 32 occasional (7.5%) Occasional (29-5%) HP:0006858
37 deeply set eye 59 32 very rare (1%) Very rare (<4-1%) HP:0000490
38 focal seizures, afebril 59 32 very rare (1%) Very rare (<4-1%) HP:0040168
39 spasticity 59 32 Frequent (79-30%) HP:0001257
40 ataxia 59 Frequent (79-30%)
41 dysarthria 32 HP:0001260
42 cerebellar atrophy 32 HP:0001272
43 upper motor neuron dysfunction 59 Frequent (79-30%)
44 abnormal upper motor neuron morphology 32 HP:0002127

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
myopia
optic atrophy (in some patients)
abnormal smooth pursuit
vertical gaze limitation

Growth Height:
short stature

Abdomen Gastrointestinal:
dysphagia (in some patients)

Genitourinary Bladder:
bladder dysfunction (rare)

Endocrine Features:
delayed puberty (in most patients)
hypogonadotropic hypogonadism (in most patients)

Neurologic Central Nervous System:
spasticity
dysarthria
hyperreflexia
dysmetria
dystonia
more
Head And Neck Teeth:
delayed dentition
delayed eruption of the upper median incisors
hypodontia (in most patients)
oligodontia (in most patients)

Head And Neck Mouth:
drooling (in some patients)

Neurologic Peripheral Nervous System:
peripheral neuropathy (some patients)
decreased vibratory and positional sense (some patients)

Clinical features from OMIM:

607694

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:


seizures, ataxia, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness, muscle spasticity, cerebellar ataxia, cerebellar signs, static tremor, upper motor neuron signs

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

Drugs for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 362)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Reboxetine Approved, Experimental Phase 4 98769-81-4, 71620-89-8 123628 65856
2
Sertraline Approved Phase 4 79617-96-2 68617
3
Lithium carbonate Approved Phase 4 554-13-2
4
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
5
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
6
Ziprasidone Approved Phase 4 146939-27-7 60854
7
Norepinephrine Approved Phase 4 51-41-2 439260
8
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
9
Clonidine Approved Phase 4 4205-90-7 2803
10
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
11
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
12
Memantine Approved, Investigational Phase 4 19982-08-2 4054
13
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
14
Galantamine Approved Phase 4 357-70-0 9651
15
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
16
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
17
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
18
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
19
Oxcarbazepine Approved Phase 4 28721-07-5 34312
20
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
21
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
22
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
23
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
24
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
25
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
26
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
27
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
28
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
29
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
30
Ethanol Approved Phase 4 64-17-5 702
31
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
32
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
33
Serine Approved, Nutraceutical Phase 4 56-45-1 5951
34
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
35 Anti-Infective Agents Phase 4
36 Quetiapine Fumarate Phase 4 111974-72-2
37 Renal Agents Phase 4
38 Sulfalene Phase 4
39 Antimalarials Phase 4
40 Antiparasitic Agents Phase 4
41 Anti-Infective Agents, Urinary Phase 4
42 Antiprotozoal Agents Phase 4
43 Analgesics Phase 4
44 Wakefulness-Promoting Agents Phase 4
45 Sympatholytics Phase 4
46 Protective Agents Phase 4
47 Central Nervous System Depressants Phase 4
48 Vasoconstrictor Agents Phase 4
49 Tranquilizing Agents Phase 4
50 Dopamine Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 1074)
# Name Status NCT ID Phase Drugs
1 Functional Brain Markers and Predictors of Treatment Response Associated With Norepinephrine System Genes in ADHD Unknown status NCT00862108 Phase 4 Methylphenidate
2 Comparing Treatment With Melatonin to Treatment With Stimulants (Methylphenidate) in Children With Attention Deficit Hyperactivity Disorder and Sleep Difficulties Unknown status NCT01393574 Phase 4 Melatonin;Methylphenidate
3 Comprehensive Pathophysiological Study Based on the Core Neurocognitive Deficits and Development of Biological Markers of Treatment Response in Attention Deficit Hyperactivity Disorder Unknown status NCT02623114 Phase 4 methylphenidate;atomoxetine
4 A 12-Month Open Label Safety Study of Methylphenidate Hydrochloride Extended-Release Capsules (Aptensio XR®) in Children Ages 4-5 Years Diagnosed With Attention-Deficit/Hyperactivity Disorder (ADHD) Unknown status NCT02677519 Phase 4 Aptensio XR
5 The Effect of a Once Daily Evening Dose of Atomoxetine (ATX) on ADHD-Related Insomnia in Children and Adolescents Unknown status NCT00252278 Phase 4 atomoxetine
6 Efficacy of Methylphenidate for Management of Long-Term Attention Problems After Pediatric Traumatic Brain Injury (TBI) Unknown status NCT01933217 Phase 4 Methylphenidate;Placebo
7 A Randomized , Controlled, Doulbe Blind Placebo Trial To Evaluate The Efficacy and the Tolerance of an Omega 3 Fatty Acids Supplementation in ADHD Children Unknown status NCT00770627 Phase 4
8 A Study to Identify the Peripheral Biomarkers of Symptomatology, Neurocognitive Functions, and Medication Response in Attention Deficit Hyperactivity Disorder Unknown status NCT02074228 Phase 4 Methylphenidate (Concerta)
9 Study of Associated Gene Polymorphisms With Atomoxetine Response Prediction in ADHD Treatment Unknown status NCT01339286 Phase 4 atomoxetine
10 Association Between Motorcycle Accidents, Attention Deficit/Hyperactivity Disorder and Substance Use Disorder and Motorcycle Accidents Unknown status NCT00536419 Phase 4 Methylphenidate
11 A Pharmacokinetic Study of Aptensio XR® (Methylphenidate Hydrochloride Extended-release) Capsules in Male or Female Pre-School Children 4 to Under 6 Years of Age With ADHD in Fed Condition Unknown status NCT02470234 Phase 4 Methylphenidate HCl ER Capsules
12 Methylphenidate Treatment of Children and Adolescents Diagnosed With ADHD and Its Influence on Comorbid Trichotillomania Unknown status NCT00552266 Phase 4 Methylphenidate
13 The Assessment of Efficacy and Tolerability of Methylphenidate vs. Risperidone in the Treatment of Children and Adolescents With ADHD and Disruptive Disorders Unknown status NCT02063945 Phase 4 Methylphenidate;Risperidone
14 Adjunctive Treatment With Divalproex or Risperidone for Aggression Refractory to Stimulant Monotherapy Among Children With ADHD Unknown status NCT00794625 Phase 4 Valproate;Risperidone;Placebo;Stimulant medication
15 Assessment and Follow Up Study of Children and Adolescent With Bipolar Disorder Unknown status NCT01000402 Phase 4 Psychopharmacotherapy
16 Methylphenidate in Healthy Young Adults Unknown status NCT00815841 Phase 4 METHYLPHENIDATE
17 Nicotine Treatment of Impulsivity in Parkinson's Disease: A Pilot Study Unknown status NCT01216904 Phase 4 nicotine patch;placebo
18 Phase 3 Reboxetine Treatment in Depressed Children and Adolescents an 8-Week, Open Study Unknown status NCT00426946 Phase 4 Reboxetine
19 Effects of a Probiotic Supplement on Symptoms of ADHD and Anxiety in Children Unknown status NCT02545634 Phase 4
20 A Randomized, Double-Blind, Placebo-Controlled, Flexible-Dose Titration Study of Aptensio XR® in Children Ages 4 to Under 6 Years Diagnosed With Attention Deficit-Hyperactivity Disorder (ADHD) Unknown status NCT02683265 Phase 4 Aptensio XR;Placebo
21 A Randomized, Double-Blind, Crossover Comparison of Atomoxetine and Placebo in Child Outpatients With Attention-Deficit/Hyperactivity Disorder, Reading Disorder, or Comorbid Attention-Deficit/Hyperactivity Disorder and Reading Disorder. Completed NCT00191906 Phase 4 Atomoxetine Hydrochloride;placebo
22 Phase IV Placebo-Controlled Study of Atomoxetine Hydrochloride in the Treatment of Adults With ADHD and Comorbid Social Anxiety Disorder Completed NCT00190879 Phase 4 Atomoxetine hydrochloride;placebo
23 A Pilot Study of Omega-3 Fatty Acid Supplementation to ADHD Medication in Children With ADHD and Deficits in Emotional Self-Regulation Completed NCT02204410 Phase 4 ADHD Medication
24 Evaluation of Academic Performance in Asian Children Aged 8 to 11 Years With Attention-Deficit/Hyperactivity Disorder Treated With Atomoxetine Hydrochloride Completed NCT00471354 Phase 4 Atomoxetine
25 An Open-Label Study of Naltrexone in Adults With Attention Deficit Hyperactivity Disorder. Completed NCT01873729 Phase 4 Naltrexone
26 Open-Label Treatment Trial to Assess the Short-Term Tolerability, Safety, and Efficacy of Methylphenidate Hydrochloride Extended-Release Liquid Formulation in High-Functioning Autism Spectrum Disorder Adults With Attention-Deficit/Hyperactivity Disorder Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
27 An Open-Label, Multicenter, Pilot Study of the Safety and Efficacy of Transitioning From a Stimulant Medication to Atomoxetine in Pediatric and Adolescent Outpatients With DSM-IV Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT00485875 Phase 4 Atomoxetine Hydrochloride
28 An Open-Label Pilot Study of Atomoxetine Hydrochloride to Evaluate Neuropsychological Function in Children Ages 6 to 10 Years With Attention-Deficit/Hyperactivity Disorder. Completed NCT00216918 Phase 4 Atomoxetine Hydrochloride
29 A 3 Month Open-Label Study of Atomoxetine in Children With Attention-Deficit/Hyperactivity Disorder; Symptomatic and Functional Outcomes. Completed NCT00191633 Phase 4 Atomoxetine
30 Open-Label Treatment With Atomoxetine Hydrochloride in Child and Adolescents With Attention-Deficit/Hyperactivity Disorder and Comorbid Dyslexia Completed NCT00191048 Phase 4 Atomoxetine
31 A Randomized, Double-blind Comparison of Atomoxetine Hydrochloride and Placebo for Symptoms of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Autism Spectrum Disorder Completed NCT00380692 Phase 4 Atomoxetine;Placebo
32 Pharmacokinetic Study of DYANAVEL XR (Amphetamine) Extended-release Oral Suspension, in Children Aged 4 to 5 Years With Attention-deficit/Hyperactivity Disorder Completed NCT03610464 Phase 4 Amphetamine Extended Release Suspension [Dyanavel]
33 A 40-Week, Phase 4, Double-Blind, Placebo-Controlled, Multicenter, Randomized-Withdrawal Study to Evaluate the Long-Term Efficacy and Safety of KAPVAY™ (Clonidine Hydrochloride) Extended-Release in Children and Adolescents With ADHD Completed NCT01439126 Phase 4 clonidine hydrochloride;Placebo
34 A Randomized, Multi-center, Double-blind, Placebo-controlled, Cross-over Study Evaluating the Safety and Efficacy of Dex-Methylphenidate Extended Release 30 mg vs. 20 mg as Measured by SKAMP-Combined Scores in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) in a Laboratory Classroom Setting. Completed NCT00776009 Phase 4 Dex-Methylphenidate hydrochloride Extended Release (Focalin® XR);Placebo
35 A Randomized, Double-Blind Comparison of the Time Course of Response to Two Extended-Release Oral Delivery Systems for Methylphenidate in Pediatric Patients With Attention Deficit Hyperactivity Disorder in an Analog Classroom Setting: The CoMACS Study Completed NCT00381758 Phase 4 Methylphenidate Extended Release Capsules
36 A Phase 4, Randomized, Double-blind, Multicenter, Parallel-group, Active-controlled, Dose-optimization Safety and Efficacy Study of SPD489 (VYVANSE®) Compared With OROS-MPH (CONCERTA®) With a Placebo Reference Arm, in Adolescents Aged 13-17 Years With Attention-deficit/Hyperactivity Disorder (ADHD) Completed NCT01552915 Phase 4 Lisdexamfetamine dimesylate;Methylphenidate Hydrochloride;Placebo
37 A Phase 4, Randomized, Double-blind, Multicenter, Parallel-group, Active-controlled, Forced-dose Titration, Safety and Efficacy Study of SPD489 (VYVANSE®) Compared With OROS-MPH (CONCERTA®) With a Placebo Reference Arm, in Adolescents Aged 13-17 Years With Attention-deficit/Hyperactivity Disorder (ADHD) Completed NCT01552902 Phase 4 Lisdexamfetamine dimesylate;Methylphenidate Hydrochloride;Placebo
38 A Randomized, Multi-center, Double-blind, Cross-over Study Comparing the Efficacy and Safety of Focalin® XR 20 mg Versus Placebo at the 0.5 Hour Timepoint (Post-dose) in Children (6-12 Years) With Attention-Deficit/Hyperactivity Disorder (ADHD) in a Laboratory Classroom Setting Completed NCT00564954 Phase 4 Dex-methylphenidate hydrochloride extended-release (Focalin XR);Placebo
39 A Double-Blind Placebo Controlled Study of Atomoxetine Hydrochloride for the Treatment of ADHD in Children and Adolescents With ADHD and Comorbid Dyslexia Completed NCT00607919 Phase 4 Atomoxetine;Placebo
40 Randomized Control Study of Concerta and Strattera on the Improvement of Executive Function in Attention Deficit Hyperactivity Disorder Children Completed NCT01065259 Phase 4 OROS MPH;Atomoxetine
41 Genetic Polymorphism of Drug Transporters in OROS-Methylphenidate Treatment in Children and Adolescents With Attention Deficit Hyperactivity Disorder(ADHD) Completed NCT00842127 Phase 4 OROS-methylphenidate (Concerta)
42 Effect of OROS-Methylphenidate (Concerta) on Different Domains of Attention and Working Memory in Children With Attention-Deficit/Hyperactivity Disorder Completed NCT00530257 Phase 4 Placebo;OROS-methylphenidate
43 A Randomized, Double-Blind, Parallel-Group, Analog Classroom Study, Evaluating ADDERALL XR Versus STRATTERA, Dosed Once Daily, in Children Aged 6-12 With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT00506727 Phase 4 Mixed amphetamine salts (ADDERALL XR);Atomoxetine hydrochloride
44 Efficacy and Safety/Tolerability of Methylphenidate Transdermal System (MTS) for Before-School Dysfunction in Children With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT00586157 Phase 4 Methylphenidate Transdermal System;Placebo
45 Efficacy and Safety/Tolerability of OROS MPH (Concerta) Plus Atomoxetine (ATMX) in Children and Adolescents (Age 6-17) With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT00585910 Phase 4 Atomoxetine and OROS Methylphenidate
46 A Phase 4, Double-Blind, Multi-Center, Placebo-Controlled, Randomized Withdrawal, Safety and Efficacy Study of SPD489 in Adults Aged 18-55 With Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT00877487 Phase 4 SPD489 (Lisdexamfetamine dimesylate);Placebo
47 A Double-Blind Study of Atomoxetine Hydrochloride Versus Placebo for the Treatment of ADHD in Young Adults With an Assessment of Associated Functional Outcomes Completed NCT00510276 Phase 4 Atomoxetine hydrochloride;Placebo
48 Evaluation of Continuous Symptom Treatment of ADHD: A Placebo-Controlled Double-Blind Assessment of Morning-Dosed or Evening-Dosed Strattera Completed NCT00486122 Phase 4 Atomoxetine Hydrochloride;Placebo
49 Effects of Atomoxetine and Oros-mph on Executive Functions in Patients With Combined Type Attention Deficit Hyperactivity Disorder Completed NCT02352051 Phase 4 Atomoxetine;methylphenidate
50 A Multicenter Open Trial to Evaluate the Effectiveness and Quality of Life in Adults With Attention Deficit /Hyperactivity Disorder (ADHD) Treated With Long Acting Methylphenidate (CONCERTA) Completed NCT00783835 Phase 4 Long-Acting Methylphenidate

Search NIH Clinical Center for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Amphetamine
AMPHETAMINE ADIPATE
Amphetamine aspartate
Amphetamine Sulfate
AMPHETAMINE/DEXTROAMPHETAMINE RESIN COMPLEX
atomoxetine
atomoxetine hydrochloride
Bupropion
Bupropion hydrobromide
Bupropion Hydrochloride
Clonidine
CLONIDINE HCL PWDR
Clonidine Hydrochloride
Desipramine
Desipramine Hydrochloride
dexmethylphenidate
dexmethylphenidate hydrochloride
Dextroamphetamine
DEXTROAMPHETAMINE ADIPATE
Dextroamphetamine saccharate
Dextroamphetamine Sulfate
Imipramine
Imipramine Hydrochloride
Imipramine pamoate
Methamphetamine
Methylphenidate
Methylphenidate Hydrochloride
modafinil
Nortriptyline
Nortriptyline Hydrochloride
Pemoline
Selegiline
selegiline hydrochloride
venlafaxine
Venlafaxine hydrochloride

Genetic Tests for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

Anatomical Context for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

MalaCards organs/tissues related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

41
Brain, Testes, Eye, Cortex, Prefrontal Cortex, Heart, Bone

Publications for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

Articles related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

(show all 11)
# Title Authors PMID Year
1
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 8 71
22036171 2011
2
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 8 71
21855841 2011
3
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. 8 71
20640464 2010
4
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. 8 71
17159124 2006
5
Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? 8 71
12605447 2003
6
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. 8
25339210 2014
7
POLR3-Related Leukodystrophy 71
22855961 2012
8
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22. 8
20721593 2011
9
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. 8
17712733 2007
10
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. 8
15851747 2005
11
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. 38
27506977 2016

Variations for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

6 (show all 26)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POLR3A NM_007055.4(POLR3A): c.3243-1G> A single nucleotide variant Pathogenic rs1554837782 10:79744057-79744057 10:77984299-77984299
2 POLR3A NM_007055.4(POLR3A): c.2015G> A (p.Gly672Glu) single nucleotide variant Pathogenic rs267608670 10:79767519-79767519 10:78007761-78007761
3 POLR3A NM_007055.4(POLR3A): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs267608678 10:79784801-79784801 10:78025043-78025043
4 POLR3A NM_007055.4(POLR3A): c.2690T> A (p.Ile897Asn) single nucleotide variant Pathogenic rs267608681 10:79753052-79753052 10:77993294-77993294
5 POLR3A NM_007055.4(POLR3A): c.3013C> T (p.Arg1005Cys) single nucleotide variant Pathogenic rs267608682 10:79745719-79745719 10:77985961-77985961
6 POLR3B NM_018082.6(POLR3B): c.1568T> A (p.Val523Glu) single nucleotide variant Pathogenic rs138249161 12:106826199-106826199 12:106432421-106432421
7 POLR3A NM_007055.4(POLR3A): c.1114G> A (p.Asp372Asn) single nucleotide variant Pathogenic rs267608673 10:79781375-79781375 10:78021617-78021617
8 POLR3A NM_007055.4(POLR3A): c.1907C> A (p.Ser636Tyr) single nucleotide variant Pathogenic rs267608676 10:79769297-79769297 10:78009539-78009539
9 POLR3A NM_007055.4(POLR3A): c.2171G> A (p.Cys724Tyr) single nucleotide variant Pathogenic rs267608679 10:79764550-79764550 10:78004792-78004792
10 POLR3A NM_007055.4(POLR3A): c.2324A> T (p.Asn775Ile) single nucleotide variant Pathogenic rs267608672 10:79761990-79761990 10:78002232-78002232
11 POLR3A NM_007055.4(POLR3A): c.2830G> T (p.Glu944Ter) single nucleotide variant Pathogenic rs267608674 10:79750883-79750883 10:77991125-77991125
12 POLR3A NM_007055.4(POLR3A): c.3014G> A (p.Arg1005His) single nucleotide variant Pathogenic rs200118797 10:79745718-79745718 10:77985960-77985960
13 POLR3A NM_007055.4(POLR3A): c.3742_3743insACC (p.Ser1248delinsTyrPro) insertion Pathogenic rs267608669 10:79741928-79741929 10:77982170-77982171
14 POLR3A NM_007055.4(POLR3A): c.3991G> A (p.Ala1331Thr) single nucleotide variant Pathogenic rs267608680 10:79739932-79739932 10:77980174-77980174
15 POLR3A NM_007055.4(POLR3A): c.4006C> T (p.Gln1336Ter) single nucleotide variant Pathogenic rs267608675 10:79739917-79739917 10:77980159-77980159
16 POLR3A NM_007055.4(POLR3A): c.2325C> G (p.Asn775Lys) single nucleotide variant Pathogenic 10:79761989-79761989 10:78002231-78002231
17 POLR3A NM_007055.4(POLR3A): c.2617-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs181087667 10:79753126-79753126 10:77993368-77993368
18 POLR3A NM_007055.4(POLR3A): c.1909+18G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608677 10:79769277-79769277 10:78009519-78009519
19 POLR3A NM_007055.4(POLR3A): c.2554A> G (p.Met852Val) single nucleotide variant Likely pathogenic rs267608671 10:79759801-79759801 10:78000043-78000043
20 POLR3B NM_018082.6(POLR3B): c.1263+2T> C single nucleotide variant Likely pathogenic rs774526181 12:106821138-106821138 12:106427360-106427360
21 POLR3B NM_018082.6(POLR3B): c.1244T> C (p.Met415Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199504211 12:106821117-106821117 12:106427339-106427339
22 POLR3A NM_007055.4(POLR3A): c.1771-7C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201314157 10:79769440-79769440 10:78009682-78009682
23 POLR3A NM_007055.4(POLR3A): c.1674C> G (p.Phe558Leu) single nucleotide variant Uncertain significance rs267608668 10:79769718-79769718 10:78009960-78009960
24 POLR3A NM_007055.4(POLR3A): c.3436G> A (p.Ala1146Thr) single nucleotide variant Uncertain significance rs41274600 10:79742569-79742569 10:77982811-77982811
25 POLR3A NM_007055.4(POLR3A): c.2287G> A (p.Ala763Thr) single nucleotide variant Uncertain significance 10:79762027-79762027 10:78002269-78002269
26 POLR3A NM_007055.4(POLR3A): c.1400C> T (p.Ser467Leu) single nucleotide variant Uncertain significance 10:79777364-79777364 10:78017606-78017606

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

74 (show all 15)
# Symbol AA change Variation ID SNP ID
1 POLR3A p.Asp372Asn VAR_066516 rs267608673
2 POLR3A p.Phe558Leu VAR_066517 rs267608668
3 POLR3A p.Ser636Tyr VAR_066518 rs267608676
4 POLR3A p.Gly672Glu VAR_066519 rs267608670
5 POLR3A p.Cys724Tyr VAR_066520 rs267608679
6 POLR3A p.Asn775Ile VAR_066521 rs267608672
7 POLR3A p.Met852Val VAR_066522 rs267608671
8 POLR3A p.Arg1005Cys VAR_066523 rs267608682
9 POLR3A p.Ile897Asn VAR_067004 rs267608681
10 POLR3A p.Pro91Leu VAR_072338 rs137571737
11 POLR3A p.Trp310Cys VAR_072339 rs121723090
12 POLR3A p.Ala387Gly VAR_072340 rs130789666
13 POLR3A p.Ser602Arg VAR_072341 rs762708292
14 POLR3A p.Ile804Thr VAR_072342
15 POLR3A p.Glu1261Lys VAR_072343 rs371703979

Expression for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism.

Pathways for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

GO Terms for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

Cellular components related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase III complex GO:0005666 8.62 POLR3B POLR3A

Biological processes related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.26 POLR3B POLR3A
2 transcription by RNA polymerase III GO:0006383 9.16 POLR3B POLR3A
3 positive regulation of interferon-beta production GO:0032728 8.96 POLR3B POLR3A
4 defense response to virus GO:0051607 8.8 POLR3B POLR3A AIMP1

Molecular functions related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 9.16 POLR3B POLR3A
2 DNA-directed 5'-3' RNA polymerase activity GO:0003899 8.96 POLR3B POLR3A
3 RNA polymerase III activity GO:0001056 8.62 POLR3B POLR3A

Sources for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
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32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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