HLD7
MCID: LKD017
MIFTS: 56

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 56 73 13
Leukodystrophy with Oligodontia 12 58 73
Hld7 56 12 73
Hypomyelinating Leukodystrophy 7 with or Without Oligodontia and-or Hypogonadotropic Hypogonadism 12 15
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 56 71
Hypomyelination-Cerebellar Atrophy-Hypoplasia of the Corpus Callosum Syndrome 12 58
Tremor-Ataxia-Central Hypomyelination Syndrome 12 58
Dentoleukoencephalopathy 12 58
Tach Syndrome 12 58
Addh 56 73
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism 4h Syndrome 73
Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome 58
Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition 56
Ataxia-Delayed Dentition-Hypomyelination Syndrome; Odontoleukodystrophy 12
Leukoencephalopathy Hypomyelinating with Ataxia and Delayed Dentition 73
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome 12
Ataxia, Delayed Dentition, and Hypomyelination; Addh 56
Ataxia-Delayed Dentition-Hypomyelination Syndrome 58
Leukodystrophy, Dysmyelinating, with Oligodontia 71
Ataxia, Delayed Dentition, and Hypomyelination 56
Ataxia Delayed Dentition and Hypomyelination 73
Tremor-Ataxia with Central Hypomyelination 73
Attention Deficit Hyperactivity Disorder 71
Odontoleukodystrophy 58
4h Syndrome 56
Tach 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


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

OMIM : 56 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 polr3-related leukodystrophy and leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 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 are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and RNA Polymerase III Transcription Initiation. 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 hyperreflexia

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 : 73 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 80)
# Related Disease Score Top Affiliating Genes
1 polr3-related leukodystrophy 33.3 POLR3B POLR3A
2 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 30.5 POLR3K POLR3B POLR3A PLP1 GJC2
3 hypogonadotropic hypogonadism 30.3 POLR3B POLR3A PNPLA6
4 hypogonadism 30.3 POLR3B POLR3A PNPLA6
5 hypomyelinating leukoencephalopathy 29.3 POLR3B POLR3A PLP1 GJC2
6 hypomyelinating leukodystrophy 28.5 POLR3B POLR3A PLP1 GJC2 AIMP1
7 leukodystrophy 28.4 PSAP POLR3B POLR3A PLP1 GJC2 AIMP1
8 attention deficit-hyperactivity disorder 11.6
9 boutonneuse fever 10.4
10 spotted fever 10.4
11 hypogonadotropism 10.4
12 conduct disorder 10.3
13 depression 10.3
14 exanthem 10.3
15 hallermann-streiff syndrome 10.2 POLR3A GJC2
16 leukodystrophy, hypomyelinating, 10 10.2 POLR3B POLR3A
17 leukodystrophy, hypomyelinating, 9 10.2 POLR3A GJC2
18 ataxia and polyneuropathy, adult-onset 10.2
19 leukodystrophy, hypomyelinating, 3 10.2 POLR3A AIMP1
20 african tick-bite fever 10.2
21 tremor 10.2
22 asperger syndrome 10.1
23 heart disease 10.1
24 dyslexia 10.1
25 congestive heart failure 10.1
26 learning disability 10.1
27 dystonia 11, myoclonic 10.1 POLR3B POLR3A
28 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.0
29 sarcoidosis 1 10.0
30 triiodothyronine receptor auxiliary protein 10.0
31 yemenite deaf-blind hypopigmentation syndrome 10.0
32 birdshot chorioretinopathy 10.0
33 rocky mountain spotted fever 10.0
34 q fever 10.0
35 ornithosis 10.0
36 keratomalacia 10.0
37 choroiditis 10.0
38 ichthyosis 10.0
39 night blindness 10.0
40 vasculitis 10.0
41 chorioretinitis 10.0
42 pityriasis rosea 10.0
43 meningitis 10.0
44 multifocal choroiditis 10.0
45 neonatal meningitis 10.0
46 pityriasis rotunda 10.0
47 spasticity 10.0
48 posttransplant acute limbic encephalitis 10.0
49 spastic ataxia 10.0 POLR3A GJC2
50 hypogonadotropic hypogonadism 7 with or without anosmia 9.9 POLR3B PNPLA6

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:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 58 31 hallmark (90%) Frequent (79-30%) HP:0000823
2 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
3 nystagmus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000639
4 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
5 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
9 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
10 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
11 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
12 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
13 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
14 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
15 hypogonadotrophic hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000044
16 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
17 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
18 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
19 postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002174
20 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
21 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
22 autonomic bladder dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0005341
23 vertical supranuclear gaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0000511
24 cns hypomyelination 58 31 frequent (33%) Frequent (79-30%) HP:0003429
25 oligodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000677
26 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
27 abnormality of ocular smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0000617
28 abnormality of the basal ganglia 58 31 frequent (33%) Frequent (79-30%) HP:0002134
29 positive romberg sign 58 31 frequent (33%) Frequent (79-30%) HP:0002403
30 high myoinositol in brain by mrs 58 31 frequent (33%) Frequent (79-30%) HP:0025460
31 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
32 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
33 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
34 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
35 impaired vibration sensation in the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002166
36 impaired distal proprioception 58 31 occasional (7.5%) Occasional (29-5%) HP:0006858
37 deeply set eye 58 31 very rare (1%) Very rare (<4-1%) HP:0000490
38 focal seizures, afebril 58 31 very rare (1%) Very rare (<4-1%) HP:0040168
39 spasticity 58 31 Frequent (79-30%) HP:0001257
40 ataxia 58 Frequent (79-30%)
41 dysarthria 31 HP:0001260
42 cerebellar atrophy 31 HP:0001272
43 upper motor neuron dysfunction 58 Frequent (79-30%)
44 abnormal upper motor neuron morphology 31 HP:0002127

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
dysmetria
dystonia
more
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)

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

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

MGI Mouse Phenotypes related to Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.23 AIMP1 GJC2 OTUD4 PLP1 PNPLA6 POLR3A

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 350)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Reboxetine Approved, Experimental Phase 4 71620-89-8, 98769-81-4 123628 65856
2
Sertraline Approved Phase 4 79617-96-2 68617
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
4
Lithium carbonate Approved Phase 4 554-13-2
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
Oxcarbazepine Approved Phase 4 28721-07-5 34312
19
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
20
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
21
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
22
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
23 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
24
Levetiracetam Approved Phase 4 102767-28-2 441341
25
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
26
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
27
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
28
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
29
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
30
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
31
Ethanol Approved Phase 4 64-17-5 702
32
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
33
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
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 Antiparasitic Agents Phase 4
39 Antiprotozoal Agents Phase 4
40 Anti-Infective Agents, Urinary Phase 4
41 Antimalarials Phase 4
42 Sulfalene Phase 4
43 Analgesics Phase 4
44 Cytochrome P-450 CYP3A Inducers Phase 4
45 Sympatholytics Phase 4
46 Central Nervous System Depressants Phase 4
47 Vasoconstrictor Agents Phase 4
48 Protective Agents Phase 4
49 Antipsychotic Agents Phase 4
50 Tranquilizing Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 1119)
# 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 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
4 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
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 Aggressive Behaviour in Children With Tourette's Syndrome (TS) and Comorbid Attention Deficit Hyperactivity Disorder (ADHD) Unknown status NCT00152750 Phase 4 APO-clonidine
7 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)
8 Efficacy of Methylphenidate for Management of Long-Term Attention Problems After Pediatric Traumatic Brain Injury (TBI) Unknown status NCT01933217 Phase 4 Methylphenidate;Placebo
9 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
10 Study of Associated Gene Polymorphisms With Atomoxetine Response Prediction in ADHD Treatment Unknown status NCT01339286 Phase 4 atomoxetine
11 Association Between Motorcycle Accidents, Attention Deficit/Hyperactivity Disorder and Substance Use Disorder and Motorcycle Accidents Unknown status NCT00536419 Phase 4 Methylphenidate
12 Methylphenidate Treatment of Children and Adolescents Diagnosed With ADHD and Its Influence on Comorbid Trichotillomania Unknown status NCT00552266 Phase 4 Methylphenidate
13 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
14 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
15 Methylphenidate in Healthy Young Adults Unknown status NCT00815841 Phase 4 METHYLPHENIDATE
16 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
17 Assessment and Follow Up Study of Children and Adolescent With Bipolar Disorder Unknown status NCT01000402 Phase 4 Psychopharmacotherapy
18 Nicotine Treatment of Impulsivity in Parkinson's Disease: A Pilot Study Unknown status NCT01216904 Phase 4 nicotine patch;placebo
19 Phase 3 Reboxetine Treatment in Depressed Children and Adolescents an 8-Week, Open Study Unknown status NCT00426946 Phase 4 Reboxetine
20 Effects of a Probiotic Supplement on Symptoms of ADHD and Anxiety in Children Unknown status NCT02545634 Phase 4
21 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
22 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
23 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
24 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
25 An Open-Label Study of Naltrexone in Adults With Attention Deficit Hyperactivity Disorder. Completed NCT01873729 Phase 4 Naltrexone
26 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
27 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
28 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
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 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
32 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
33 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]
34 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
35 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
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, 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
39 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
40 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
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 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
43 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
44 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
45 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
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 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
48 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
49 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
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 71 / NDF-RT 50 :


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:

40
Brain, Testes, Eye, Cortex, Heart, Prefrontal Cortex, Liver

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. 56 6
22036171 2011
2
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 56 6
21855841 2011
3
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. 56 6
20640464 2010
4
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. 56 6
17159124 2006
5
Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? 56 6
12605447 2003
6
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. 56
25339210 2014
7
POLR3-Related Leukodystrophy 6
22855961 2012
8
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22. 56
20721593 2011
9
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. 56
17712733 2007
10
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. 56
15851747 2005
11
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. 61
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 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLR3A NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)SNV Pathogenic 31143 rs267608670 10:79767519-79767519 10:78007761-78007761
2 POLR3A NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter)SNV Pathogenic 31147 rs267608678 10:79784801-79784801 10:78025043-78025043
3 POLR3A NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn)SNV Pathogenic 31148 rs267608681 10:79753052-79753052 10:77993294-77993294
4 POLR3A NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)SNV Pathogenic 31149 rs267608682 10:79745719-79745719 10:77985961-77985961
5 POLR3B NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)SNV Pathogenic 31166 rs138249161 12:106826199-106826199 12:106432421-106432421
6 POLR3A NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn)SNV Pathogenic 41240 rs267608673 10:79781375-79781375 10:78021617-78021617
7 POLR3A NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr)SNV Pathogenic 41242 rs267608676 10:79769297-79769297 10:78009539-78009539
8 POLR3A NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr)SNV Pathogenic 41243 rs267608679 10:79764550-79764550 10:78004792-78004792
9 POLR3A NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile)SNV Pathogenic 41244 rs267608672 10:79761990-79761990 10:78002232-78002232
10 POLR3A NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter)SNV Pathogenic 41245 rs267608674 10:79750883-79750883 10:77991125-77991125
11 POLR3A NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His)SNV Pathogenic 41246 rs200118797 10:79745718-79745718 10:77985960-77985960
12 POLR3A NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro)insertion Pathogenic 41247 rs267608669 10:79741928-79741929 10:77982170-77982171
13 POLR3A NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr)SNV Pathogenic 41248 rs267608680 10:79739932-79739932 10:77980174-77980174
14 POLR3A NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter)SNV Pathogenic 41249 rs267608675 10:79739917-79739917 10:77980159-77980159
15 POLR3A NM_007055.4(POLR3A):c.3243-1G>ASNV Pathogenic 436361 rs1554837782 10:79744057-79744057 10:77984299-77984299
16 POLR3A NM_007055.4(POLR3A):c.2325C>G (p.Asn775Lys)SNV Pathogenic 638561 10:79761989-79761989 10:78002231-78002231
17 POLR3A NM_007055.4(POLR3A):c.3583del (p.Asp1195fs)deletion Pathogenic 684775 10:79742422-79742422 10:77982664-77982664
18 POLR3A NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter)SNV Pathogenic 684772 10:79769711-79769711 10:78009953-78009953
19 POLR3A NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter)SNV Pathogenic 684773 10:79781438-79781438 10:78021680-78021680
20 POLR3A NM_007055.4(POLR3A):c.601del (p.Ile201fs)deletion Pathogenic 684774 10:79784351-79784351 10:78024593-78024593
21 POLR3A NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter)SNV Pathogenic/Likely pathogenic 430255 rs780839834 10:79764602-79764602 10:78004844-78004844
22 POLR3A NM_007055.4(POLR3A):c.1909+18G>ASNV Pathogenic/Likely pathogenic 31144 rs267608677 10:79769277-79769277 10:78009519-78009519
23 POLR3A NM_007055.4(POLR3A):c.2617-1G>ASNV Pathogenic/Likely pathogenic 31146 rs181087667 10:79753126-79753126 10:77993368-77993368
24 POLR3A NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)SNV Likely pathogenic 31145 rs267608671 10:79759801-79759801 10:78000043-78000043
25 POLR3B NM_018082.6(POLR3B):c.1263+2T>CSNV Likely pathogenic 488794 rs774526181 12:106821138-106821138 12:106427360-106427360
26 POLR3A NM_007055.4(POLR3A):c.1909+22G>ASNV Conflicting interpretations of pathogenicity 445922 rs191875469 10:79769273-79769273 10:78009515-78009515
27 POLR3A NM_007055.4(POLR3A):c.1771-7C>GSNV Conflicting interpretations of pathogenicity 449556 rs201314157 10:79769440-79769440 10:78009682-78009682
28 POLR3A NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr)SNV Conflicting interpretations of pathogenicity 203362 rs41274600 10:79742569-79742569 10:77982811-77982811
29 POLR3B NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)SNV Conflicting interpretations of pathogenicity 285205 rs199504211 12:106821117-106821117 12:106427339-106427339
30 POLR3A NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu)SNV Uncertain significance 41241 rs267608668 10:79769718-79769718 10:78009960-78009960
31 POLR3A NM_007055.4(POLR3A):c.2287G>A (p.Ala763Thr)SNV Uncertain significance 587570 rs755825816 10:79762027-79762027 10:78002269-78002269
32 POLR3A NM_007055.4(POLR3A):c.1400C>T (p.Ser467Leu)SNV Uncertain significance 636254 10:79777364-79777364 10:78017606-78017606
33 POLR3A NM_007055.4(POLR3A):c.1745G>A (p.Arg582His)SNV Benign/Likely benign 377235 rs34588967 10:79769647-79769647 10:78009889-78009889

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

73 (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...

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 POLR3K POLR3B POLR3A
2
Show member pathways
11.87 POLR3K POLR3B POLR3A
3
Show member pathways
11.74 POLR3K POLR3B POLR3A
4 10.73 POLR3K POLR3B POLR3A
5
Show member pathways
10.52 POLR3K POLR3A

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 myelin sheath GO:0043209 8.96 PLP1 GJC2
2 RNA polymerase III complex GO:0005666 8.8 POLR3K 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 innate immune response GO:0045087 9.62 POLR3K POLR3B POLR3A OTUD4
2 transcription, DNA-templated GO:0006351 9.43 POLR3K POLR3B POLR3A
3 myelination GO:0042552 9.4 PSAP PLP1
4 positive regulation of interferon-beta production GO:0032728 9.37 POLR3B POLR3A
5 positive regulation of type I interferon production GO:0032481 9.33 POLR3K POLR3B POLR3A
6 defense response to virus GO:0051607 9.26 POLR3K POLR3B POLR3A AIMP1
7 transcription by RNA polymerase III GO:0006383 8.8 POLR3K POLR3B POLR3A

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 9.13 POLR3K POLR3B POLR3A
3 RNA polymerase III activity GO:0001056 8.8 POLR3K 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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