HLD7
MCID: LKD017
MIFTS: 57

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 Cytosolic sensors of pathogen-associated DNA and RNA Polymerase III Transcription Initiation. The drugs Reboxetine and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are delayed puberty and global developmental delay

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 81)
# 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 30.6 POLR3K POLR3B POLR3A PLP1 GJC2
3 hypogonadotropic hypogonadism 30.4 POLR3B POLR3A PNPLA6
4 hypogonadism 30.4 POLR3B POLR3A PNPLA6
5 gordon holmes syndrome 29.7 POLR3B POLR3A PNPLA6
6 hypomyelinating leukoencephalopathy 29.2 POLR3B POLR3A PLP1 GJC2
7 hypomyelinating leukodystrophy 28.4 POLR3B POLR3A PLP1 GJC2 AIMP1
8 leukodystrophy 28.2 PSAP POLR3B POLR3A PLP1 GJC2 AIMP1
9 attention deficit-hyperactivity disorder 11.6
10 boutonneuse fever 10.4
11 spotted fever 10.4
12 conduct disorder 10.3
13 depression 10.3
14 exanthem 10.3
15 spastic ataxia 4 10.2 POLR3B POLR3A
16 ataxia and polyneuropathy, adult-onset 10.2
17 leukodystrophy, hypomyelinating, 10 10.2 POLR3B POLR3A
18 hallermann-streiff syndrome 10.2 POLR3A GJC2
19 leukodystrophy, hypomyelinating, 9 10.2 POLR3A GJC2
20 african tick-bite fever 10.2
21 tremor 10.2
22 leukodystrophy, hypomyelinating, 3 10.2 POLR3A AIMP1
23 asperger syndrome 10.1
24 heart disease 10.1
25 dyslexia 10.1
26 congestive heart failure 10.1
27 learning disability 10.1
28 dystonia 11, myoclonic 10.1 POLR3B POLR3A
29 boucher-neuhauser syndrome 10.1 POLR3B PNPLA6
30 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.0
31 sarcoidosis 1 10.0
32 triiodothyronine receptor auxiliary protein 10.0
33 yemenite deaf-blind hypopigmentation syndrome 10.0
34 birdshot chorioretinopathy 10.0
35 rocky mountain spotted fever 10.0
36 q fever 10.0
37 ornithosis 10.0
38 keratomalacia 10.0
39 choroiditis 10.0
40 ichthyosis 10.0
41 night blindness 10.0
42 vasculitis 10.0
43 chorioretinitis 10.0
44 pityriasis rosea 10.0
45 meningitis 10.0
46 multifocal choroiditis 10.0
47 neonatal meningitis 10.0
48 pityriasis rotunda 10.0
49 spasticity 10.0
50 posttransplant acute limbic encephalitis 10.0

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 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 58 31 hallmark (90%) Frequent (79-30%) HP:0000823
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
7 nystagmus 58 31 occasional (7.5%) Frequent (79-30%) HP:0000639
8 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
9 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
10 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
11 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
12 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
13 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
14 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
15 positive romberg sign 58 31 frequent (33%) Frequent (79-30%) HP:0002403
16 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
17 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
18 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
19 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
20 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
21 vertical supranuclear gaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0000511
22 oligodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000677
23 abnormality of the basal ganglia 58 31 frequent (33%) Frequent (79-30%) HP:0002134
24 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
25 cns hypomyelination 58 31 frequent (33%) Frequent (79-30%) HP:0003429
26 postural tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002174
27 autonomic bladder dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0005341
28 abnormality of ocular smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0000617
29 high myoinositol in brain by mrs 58 31 frequent (33%) Frequent (79-30%) HP:0025460
30 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
31 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
32 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
33 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
34 impaired distal proprioception 58 31 occasional (7.5%) Occasional (29-5%) HP:0006858
35 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
36 impaired vibration sensation in the lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002166
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 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
42 dysarthria 31 HP:0001260
43 upper motor neuron dysfunction 58 Frequent (79-30%)
44 cerebellar atrophy 31 HP:0001272
45 abnormal upper motor neuron morphology 31 HP:0002127

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

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

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
hyperreflexia
dysarthria
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, headache, syncope, pain, 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 320)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Reboxetine Approved, Experimental Phase 4 98769-81-4, 71620-89-8 123628 65856
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Oxcarbazepine Approved Phase 4 28721-07-5 34312
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
9
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
10
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
11
Sertraline Approved Phase 4 79617-96-2 68617
12
Lithium carbonate Approved Phase 4 554-13-2
13
Ziprasidone Approved Phase 4 146939-27-7 60854
14
Norepinephrine Approved Phase 4 51-41-2 439260
15
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
16
Clonidine Approved Phase 4 4205-90-7 2803
17
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
18
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
19
Levetiracetam Approved Phase 4 102767-28-2 441341
20
Memantine Approved, Investigational Phase 4 19982-08-2 4054
21
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
22
Galantamine Approved Phase 4 357-70-0 9651
23
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
24
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
25
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
26
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
27
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
28
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
29
Ethanol Approved Phase 4 64-17-5 702
30
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
31
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
32
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
33
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
34
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
35 Sulfalene Phase 4
36 Antineoplastic Agents, Hormonal Phase 4
37 Methylprednisolone Acetate Phase 4
38 glucocorticoids Phase 4
39 Hormone Antagonists Phase 4
40 Analgesics, Non-Narcotic Phase 4
41 Antiemetics Phase 4
42 Gastrointestinal Agents Phase 4
43 Anesthetics, Intravenous Phase 4
44 Anti-Infective Agents Phase 4
45 Antiparasitic Agents Phase 4
46 Antiprotozoal Agents Phase 4
47 Antimalarials Phase 4
48 Analgesics Phase 4
49 Sympatholytics Phase 4
50 Serotonin Receptor Agonists Phase 4

Interventional clinical trials:

(show top 50) (show all 1162)
# 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 Electroclinical Effect of Diazepam and Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Unknown status NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid;Diazepam
6 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
7 Aggressive Behaviour in Children With Tourette's Syndrome (TS) and Comorbid Attention Deficit Hyperactivity Disorder (ADHD) Unknown status NCT00152750 Phase 4 APO-clonidine
8 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
9 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)
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 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
13 Methylphenidate Treatment of Children and Adolescents Diagnosed With ADHD and Its Influence on Comorbid Trichotillomania Unknown status NCT00552266 Phase 4 Methylphenidate
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 Methylphenidate in Healthy Young Adults Unknown status NCT00815841 Phase 4 METHYLPHENIDATE
16 Assessment and Follow Up Study of Children and Adolescent With Bipolar Disorder Unknown status NCT01000402 Phase 4 Psychopharmacotherapy
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 An Open-Label Study of Naltrexone in Adults With Attention Deficit Hyperactivity Disorder. Completed NCT01873729 Phase 4 Naltrexone
25 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
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 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
28 A 3 Month Open-Label Study of Atomoxetine in Children With Attention-Deficit/Hyperactivity Disorder; Symptomatic and Functional Outcomes. Completed NCT00191633 Phase 4 Atomoxetine
29 Open-Label Treatment With Atomoxetine Hydrochloride in Child and Adolescents With Attention-Deficit/Hyperactivity Disorder and Comorbid Dyslexia Completed NCT00191048 Phase 4 Atomoxetine
30 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
31 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
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 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
34 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
35 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
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 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
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 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)
41 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
42 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
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 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
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 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
47 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
48 Effects of Atomoxetine and Oros-mph on Executive Functions in Patients With Combined Type Attention Deficit Hyperactivity Disorder Completed NCT02352051 Phase 4 Atomoxetine;methylphenidate
49 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
50 Maintenance of Benefit After 8-Week and 52-Week Treatment With Atomoxetine Hydrochloride in Adolescents With ADHD Completed NCT00191035 Phase 4 Atomoxetine

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, Prefrontal Cortex, Heart, 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. 6 56
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? 6 56
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 top 50) (show all 195) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLR3A NM_007055.4(POLR3A):c.3243-1G>ASNV Pathogenic 436361 rs1554837782 10:79744057-79744057 10:77984299-77984299
2 POLR3A NM_007055.4(POLR3A):c.2325C>G (p.Asn775Lys)SNV Pathogenic 638561 10:79761989-79761989 10:78002231-78002231
3 POLR3A NM_007055.4(POLR3A):c.3583del (p.Asp1195fs)deletion Pathogenic 684775 10:79742422-79742422 10:77982664-77982664
4 POLR3A NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter)SNV Pathogenic 684772 10:79769711-79769711 10:78009953-78009953
5 POLR3A NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter)SNV Pathogenic 684773 10:79781438-79781438 10:78021680-78021680
6 POLR3A NM_007055.4(POLR3A):c.601del (p.Ile201fs)deletion Pathogenic 684774 10:79784351-79784351 10:78024593-78024593
7 POLR3A NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)SNV Pathogenic 31143 rs267608670 10:79767519-79767519 10:78007761-78007761
8 POLR3A NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter)SNV Pathogenic 31147 rs267608678 10:79784801-79784801 10:78025043-78025043
9 POLR3A NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn)SNV Pathogenic 31148 rs267608681 10:79753052-79753052 10:77993294-77993294
10 POLR3A NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)SNV Pathogenic 31149 rs267608682 10:79745719-79745719 10:77985961-77985961
11 POLR3B NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)SNV Pathogenic 31166 rs138249161 12:106826199-106826199 12:106432421-106432421
12 POLR3A NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn)SNV Pathogenic 41240 rs267608673 10:79781375-79781375 10:78021617-78021617
13 POLR3A NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr)SNV Pathogenic 41242 rs267608676 10:79769297-79769297 10:78009539-78009539
14 POLR3A NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr)SNV Pathogenic 41243 rs267608679 10:79764550-79764550 10:78004792-78004792
15 POLR3A NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile)SNV Pathogenic 41244 rs267608672 10:79761990-79761990 10:78002232-78002232
16 POLR3A NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter)SNV Pathogenic 41245 rs267608674 10:79750883-79750883 10:77991125-77991125
17 POLR3A NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His)SNV Pathogenic 41246 rs200118797 10:79745718-79745718 10:77985960-77985960
18 POLR3A NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro)insertion Pathogenic 41247 rs267608669 10:79741928-79741929 10:77982170-77982171
19 POLR3A NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr)SNV Pathogenic 41248 rs267608680 10:79739932-79739932 10:77980174-77980174
20 POLR3A NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter)SNV Pathogenic 41249 rs267608675 10:79739917-79739917 10:77980159-77980159
21 POLR3A NM_007055.4(POLR3A):c.1909+18G>ASNV Pathogenic/Likely pathogenic 31144 rs267608677 10:79769277-79769277 10:78009519-78009519
22 POLR3A NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter)SNV Pathogenic/Likely pathogenic 430255 rs780839834 10:79764602-79764602 10:78004844-78004844
23 POLR3A NM_007055.4(POLR3A):c.2617-1G>ASNV Pathogenic/Likely pathogenic 31146 rs181087667 10:79753126-79753126 10:77993368-77993368
24 POLR3B NM_018082.6(POLR3B):c.1263+2T>CSNV Likely pathogenic 488794 rs774526181 12:106821138-106821138 12:106427360-106427360
25 POLR3A NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)SNV Likely pathogenic 31145 rs267608671 10:79759801-79759801 10:78000043-78000043
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.186G>A (p.Thr62=)SNV Conflicting interpretations of pathogenicity 715238 10:79785512-79785512 10:78025754-78025754
29 POLR3A NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=)SNV Conflicting interpretations of pathogenicity 735051 10:79741255-79741255 10:77981497-77981497
30 POLR3A NM_007055.4(POLR3A):c.1113C>T (p.Pro371=)SNV Conflicting interpretations of pathogenicity 729245 10:79781376-79781376 10:78021618-78021618
31 POLR3A NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr)SNV Conflicting interpretations of pathogenicity 203362 rs41274600 10:79742569-79742569 10:77982811-77982811
32 POLR3A NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)SNV Conflicting interpretations of pathogenicity 211930 rs146253630 10:79745881-79745881 10:77986123-77986123
33 POLR3A NM_007055.4(POLR3A):c.927C>T (p.Asp309=)SNV Conflicting interpretations of pathogenicity 211931 rs41274610 10:79781739-79781739 10:78021981-78021981
34 POLR3B NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)SNV Conflicting interpretations of pathogenicity 285205 rs199504211 12:106821117-106821117 12:106427339-106427339
35 POLR3A NM_007055.4(POLR3A):c.3858C>T (p.His1286=)SNV Conflicting interpretations of pathogenicity 301036 rs373306216 10:79741219-79741219 10:77981461-77981461
36 POLR3A , RPS24 NM_007055.4(POLR3A):c.-103T>ASNV Conflicting interpretations of pathogenicity 301086 rs117201371 10:79789268-79789268 10:78029510-78029510
37 POLR3A NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln)SNV Conflicting interpretations of pathogenicity 301038 rs143422889 10:79741937-79741937 10:77982179-77982179
38 POLR3A NM_007055.4(POLR3A):c.3280G>A (p.Asp1094Asn)SNV Conflicting interpretations of pathogenicity 301046 rs146861723 10:79744019-79744019 10:77984261-77984261
39 POLR3A NM_007055.4(POLR3A):c.3242+8C>GSNV Conflicting interpretations of pathogenicity 301048 rs778122446 10:79744920-79744920 10:77985162-77985162
40 POLR3A NM_007055.4(POLR3A):c.2604G>A (p.Thr868=)SNV Conflicting interpretations of pathogenicity 301054 rs142834115 10:79759751-79759751 10:77999993-77999993
41 POLR3A , RPS24 NM_007055.4(POLR3A):c.-35C>GSNV Conflicting interpretations of pathogenicity 368925 rs201700756 10:79789200-79789200 10:78029442-78029442
42 POLR3A NM_007055.4(POLR3A):c.1781T>G (p.Leu594Arg)SNV Uncertain significance 301064 rs886047287 10:79769423-79769423 10:78009665-78009665
43 POLR3A NM_007055.4(POLR3A):c.1432-12T>GSNV Uncertain significance 301073 rs886047290 10:79773560-79773560 10:78013802-78013802
44 POLR3A NM_007055.4(POLR3A):c.876T>A (p.Val292=)SNV Uncertain significance 301076 rs886047292 10:79781912-79781912 10:78022154-78022154
45 POLR3A NM_007055.4(POLR3A):c.726A>G (p.Pro242=)SNV Uncertain significance 301078 rs757615089 10:79782062-79782062 10:78022304-78022304
46 POLR3A NM_007055.4(POLR3A):c.2617-6C>TSNV Uncertain significance 301053 rs886047285 10:79753131-79753131 10:77993373-77993373
47 POLR3A NM_007055.4(POLR3A):c.4024+11T>GSNV Uncertain significance 301033 rs886047283 10:79739888-79739888 10:77980130-77980130
48 POLR3A NM_007055.4(POLR3A):c.*90G>ASNV Uncertain significance 301032 rs146055367 10:79737146-79737146 10:77977388-77977388
49 POLR3A NM_007055.4(POLR3A):c.3990C>T (p.Asp1330=)SNV Uncertain significance 301035 rs201875398 10:79739933-79739933 10:77980175-77980175
50 POLR3A NM_007055.4(POLR3A):c.3336G>A (p.Glu1112=)SNV Uncertain significance 301045 rs886047284 10:79743963-79743963 10:77984205-77984205

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
12.06 POLR3K POLR3D POLR3B POLR3A
2
Show member pathways
11.89 POLR3K POLR3D POLR3B POLR3A
3 10.85 POLR3K POLR3D POLR3B POLR3A
4
Show member pathways
10.73 POLR3K POLR3D 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 8.92 POLR3K POLR3D 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 immune system process GO:0002376 9.73 POLR3K POLR3D POLR3B POLR3A
2 innate immune response GO:0045087 9.67 POLR3K POLR3D POLR3B POLR3A
3 myelination GO:0042552 9.46 PSAP PLP1
4 transcription, DNA-templated GO:0006351 9.43 POLR3K POLR3B POLR3A
5 transcription by RNA polymerase III GO:0006383 9.4 POLR3K POLR3D
6 defense response to virus GO:0051607 9.35 POLR3K POLR3D POLR3B POLR3A AIMP1
7 positive regulation of interferon-beta production GO:0032728 9.33 POLR3D POLR3B POLR3A
8 positive regulation of innate immune response GO:0045089 9.32 POLR3D POLR3B
9 positive regulation of type I interferon production GO:0032481 8.92 POLR3K POLR3D 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 8.96 POLR3B POLR3A
2 DNA-directed 5'-3' RNA polymerase activity GO:0003899 8.92 POLR3K POLR3D 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
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37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
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50 NDF-RT
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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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