HLD7
MCID: LKD017
MIFTS: 63

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

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

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 73
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome 11 28 5
Hld7 57 11 73
Hypomyelinating Leukodystrophy 7 with or Without Oligodontia and-or Hypogonadotropic Hypogonadism 11 14
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 57 71
Hypomyelination-Cerebellar Atrophy-Hypoplasia of the Corpus Callosum Syndrome 11 58
Tremor-Ataxia-Central Hypomyelination Syndrome 11 58
Leukodystrophy with Oligodontia 11 73
4h Leukodystrophy 1 57 73
Tach Syndrome 11 58
4h Syndrome 57 73
Addh 57 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 57
Ataxia-Delayed Dentition-Hypomyelination Syndrome; Odontoleukodystrophy 11
Leukoencephalopathy Hypomyelinating with Ataxia and Delayed Dentition 73
Ataxia-Delayed Dentition-Hypomyelination Syndrome 58
Leukodystrophy, Dysmyelinating, with Oligodontia 71
Ataxia, Delayed Dentition, and Hypomyelination 57
Ataxia Delayed Dentition and Hypomyelination 73
Tremor-Ataxia with Central Hypomyelination 73
Attention Deficit Hyperactivity Disorder 71
Dentoleukoencephalopathy 11
Tach 73

Characteristics:


Inheritance:

Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism: Autosomal recessive 57
Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome: Autosomal recessive 58
Tremor-Ataxia-Central Hypomyelination Syndrome: Autosomal recessive 58
Hypomyelination-Cerebellar Atrophy-Hypoplasia of the Corpus Callosum Syndrome: Autosomal recessive 58

Prevelance:

Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome: <1/1000000 (Worldwide) 58
Tremor-Ataxia-Central Hypomyelination Syndrome: <1/1000000 (Worldwide) 58
Hypomyelination-Cerebellar Atrophy-Hypoplasia of the Corpus Callosum Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome: Infancy,Neonatal 58
Tremor-Ataxia-Central Hypomyelination Syndrome: Childhood,Infancy 58
Hypomyelination-Cerebellar Atrophy-Hypoplasia of the Corpus Callosum Syndrome: Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
progressive disorder
onset in childhood (range 1 to 12 years)
many patients become wheelchair-bound by second or third decade


HPO:

30
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism:
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®: 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) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism, also known as leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, is related to polr3-related leukodystrophy and tooth agenesis, and has symptoms including ataxia, tremor and back pain. 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 Norepinephrine and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and prefrontal cortex, and related phenotypes are delayed puberty and hyperreflexia

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

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 64)
# Related Disease Score Top Affiliating Genes
1 polr3-related leukodystrophy 33.0 POLR3B POLR3A
2 tooth agenesis 29.8 POLR3K POLR3H POLR3GL POLR3B POLR3A GJC2
3 gordon holmes syndrome 29.8 POLR3B POLR3A
4 hypomyelinating leukoencephalopathy 29.1 POLR3B POLR3A PLP1 HYCC1 HIKESHI GJC2
5 leukodystrophy 27.5 TMEM63A POLR3K POLR3B POLR3A PLP1 HYCC1
6 hypomyelinating leukodystrophy 27.0 TMEM63A POLR3K POLR3H POLR3GL POLR3E POLR3B
7 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.0
8 hypogonadotropic hypogonadism 7 with or without anosmia 10.3
9 hypogonadotropic hypogonadism 10.3
10 hypogonadism 10.3
11 attention deficit-hyperactivity disorder 10.2
12 pelizaeus-merzbacher-like disease 10.2 PLP1 GJC2
13 boucher-neuhauser syndrome 10.2 POLR3B POLR3A
14 spastic paraplegia 25, autosomal recessive 10.2 TMEM63A POLR3A
15 spastic paraplegia 75, autosomal recessive 10.2 PLP1 GJC2
16 spastic paraplegia 44, autosomal recessive 10.1 PLP1 GJC2
17 allan-herndon-dudley syndrome 10.1 PLP1 HIKESHI
18 leukodystrophy, hypomyelinating, 2 10.1 PLP1 GJC2
19 tremor 10.1
20 cerebrooculofacioskeletal syndrome 2 10.1 POLR3H POLR3B POLR3A
21 conduct disorder 10.1
22 reading disorder 10.1
23 megalencephalic leukoencephalopathy with subcortical cysts 10.0 TMEM63A PLP1 GJC2
24 leukodystrophy, hypomyelinating, 6 10.0 POLR3B POLR3A PLP1 GJC2
25 childhood ataxia with central nervous system hypomyelination / vanishing white matter 10.0 EIF2B4 EIF2B3
26 hemangioma of intra-abdominal structure 10.0 EIF2B4 EIF2B3
27 glycogen storage disease xv 9.9 EIF2B4 EIF2B3
28 combined saposin deficiency 9.9 EIF2B4 EIF2B3
29 goiter 9.9
30 spasticity 9.9
31 brunner syndrome 9.9
32 asperger syndrome 9.9
33 dyslexia 9.9
34 learning disability 9.9
35 mehmo syndrome 9.9 EIF2B4 EIF2B3
36 spastic paraplegia 2, x-linked 9.9 PLP1 GJC2
37 cryptorchidism, unilateral or bilateral 9.8
38 3-methylglutaconic aciduria, type iii 9.8
39 wiedemann-rautenstrauch syndrome 9.8
40 spondylocostal dysostosis 1, autosomal recessive 9.8
41 aceruloplasminemia 9.8
42 dystonia 9.8
43 peripheral nervous system disease 9.8
44 cataract 9.8
45 neuropathy 9.8
46 pathologic nystagmus 9.8
47 growth hormone deficiency 9.8
48 hypertonia 9.8
49 cerebellofaciodental syndrome 9.8 POLR3K POLR3H POLR3B POLR3A BDP1
50 leukoencephalopathy, hereditary diffuse, with spheroids 1 9.8 EIF2B4 EIF2B3

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 30 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 58 30 Hallmark (90%) Frequent (79-30%)
HP:0000823
2 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001347
3 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
4 dysphagia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002015
5 developmental regression 58 30 Very rare (1%) Frequent (79-30%)
HP:0002376
6 global developmental delay 58 30 Very rare (1%) Frequent (79-30%)
HP:0001263
7 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
8 intellectual disability, mild 58 30 Frequent (33%) Frequent (79-30%)
HP:0001256
9 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
10 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
11 hypodontia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000668
12 dysmetria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001310
13 dystonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001332
14 cerebellar hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001321
15 positive romberg sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0002403
16 babinski sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0003487
17 leukodystrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002415
18 clumsiness 58 30 Frequent (33%) Frequent (79-30%)
HP:0002312
19 hypoplasia of the corpus callosum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002079
20 intention tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0002080
21 vertical supranuclear gaze palsy 58 30 Very rare (1%) Frequent (79-30%)
HP:0000511
22 oligodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000677
23 cns hypomyelination 58 30 Frequent (33%) Frequent (79-30%)
HP:0003429
24 spastic dysarthria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002464
25 postural tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0002174
26 autonomic bladder dysfunction 58 30 Frequent (33%) Frequent (79-30%)
HP:0005341
27 abnormality of ocular smooth pursuit 58 30 Very rare (1%) Frequent (79-30%)
HP:0000617
28 high myoinositol in brain by mrs 58 30 Frequent (33%) Frequent (79-30%)
HP:0025460
29 hypogonadotropic hypogonadism 30 Very rare (1%) HP:0000044
30 abnormal basal ganglia morphology 30 Frequent (33%) HP:0002134
31 optic atrophy 58 30 Very rare (1%) Occasional (29-5%)
HP:0000648
32 cerebral cortical atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002120
33 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
34 impaired distal proprioception 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006858
35 drooling 58 30 Very rare (1%) Occasional (29-5%)
HP:0002307
36 impaired vibration sensation in the lower limbs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002166
37 deeply set eye 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000490
38 seizure 30 Very rare (1%) HP:0001250
39 tremor 30 Very rare (1%) HP:0001337
40 focal-onset seizure 30 Very rare (1%) HP:0007359
41 gaze-evoked nystagmus 30 Very rare (1%) HP:0000640
42 loss of ambulation 30 Very rare (1%) HP:0002505
43 spasticity 58 30 Frequent (79-30%)
HP:0001257
44 ataxia 58 Frequent (79-30%)
45 dysarthria 30 HP:0001260
46 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
47 upper motor neuron dysfunction 58 Frequent (79-30%)
48 cerebellar atrophy 30 HP:0001272
49 abnormality of the basal ganglia 58 Frequent (79-30%)
50 focal seizures, afebril 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased OCT4 protein expression GR00184-A-2 10.09 BDP1 EIF2B3 EIF2B4
2 Decreased OCT4 protein expression GR00184-A-5 10.09 BDP1 EIF2B3 EIF2B4
3 Decreased OCT4 protein expression GR00184-A-7 10.09 BDP1 EIF2B3 EIF2B4
4 Decreased NANOG protein expression GR00184-A-3 9.75 BDP1 EIF2B3 EIF2B4
5 Decreased NANOG protein expression GR00184-A-6 9.75 BDP1 EIF2B3 EIF2B4
6 Decreased NANOG protein expression GR00184-A-8 9.75 BDP1 EIF2B3 EIF2B4
7 Decreased POU5F1-GFP protein expression GR00184-A-1 9.63 BDP1 EIF2B3 EIF2B4
8 Decreased POU5F1-GFP protein expression GR00184-A-4 9.63 BDP1 EIF2B3 EIF2B4

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 9.4 AIMP1 AIMP2 BDP1 EIF2B3 EIF2B4 GJC2

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 291)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved Phase 4 51-41-2 439260
2
Nicotine Approved Phase 4 54-11-5 942 89594
3
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
4
Histamine Approved, Investigational Phase 4 51-45-6 774
5
Galantamine Approved Phase 4 357-70-0, 1953-04-4 9651
6
Bupropion Approved Phase 4 31677-93-7, 34841-39-9, 34911-55-2 444
7
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
8
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
9
Cyproheptadine Approved Phase 4 129-03-3 2913
10
Metamfetamine Approved, Illicit, Withdrawn Phase 4 537-46-2 10836
11
Cariprazine Approved, Investigational Phase 4 839712-12-8 11154555
12
Viloxazine Approved, Investigational, Withdrawn Phase 4 46817-91-8 5666
13
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
14
Dextroamphetamine Approved, Illicit, Investigational Phase 4 51-64-9, 300-62-9 5826 3007
15
Ethanol Approved Phase 4 64-17-5 702
16
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
17
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
18
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
19
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
20 Sulfalene Phase 4
21 Anti-Infective Agents Phase 4
22 Antiprotozoal Agents Phase 4
23 Antiparasitic Agents Phase 4
24 Antimalarials Phase 4
25 Antiparkinson Agents Phase 4
26 Analgesics Phase 4
27 Sympatholytics Phase 4
28 Sympathomimetics Phase 4
29 Antidepressive Agents Phase 4
30
Histamine phosphate Phase 4 51-74-1 134614
31 Cytochrome P-450 Enzyme Inhibitors Phase 4
32 Nootropic Agents Phase 4
33 Cholinesterase Inhibitors Phase 4
34 Gastrointestinal Agents Phase 4
35 Anti-Allergic Agents Phase 4
36 Histamine H1 Antagonists Phase 4
37 Histamine Antagonists Phase 4
38 Dermatologic Agents Phase 4
39
Dexmethylphenidate Hydrochloride Phase 4
40 Antioxidants Phase 4
41 Protective Agents Phase 4
42 Adderall Phase 4
43 Adrenergic alpha-Agonists Phase 4
44 Adrenergic Agonists Phase 4
45 Antihypertensive Agents Phase 4
46 Psychotropic Drugs Phase 4
47
Lisdexamfetamine Dimesylate Phase 4
48 Omega 3 Fatty Acid Phase 4
49 Nicotinic Agonists Phase 4
50 Cholinergic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 958)
# Name Status NCT ID Phase Drugs
1 Rhodiola Rosea in Adults With Attention Deficit/Hyperactivity Disorder Unknown status NCT02737020 Phase 4 Rhodiola;Placebo
2 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
3 International Study to Predict Optimised Treatment Response to Short or Long Acting Methylphenidate in Children and Adolescents With Attention Deficit/Hyperactivity Disorder. Unknown status NCT00863499 Phase 4 Short Acting Methylphenidate;Long Acting Methylphenidate
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 Association Between Motorcycle Accidents, Attention Deficit/Hyperactivity Disorder and Substance Use Disorder and Motorcycle Accidents Unknown status NCT00536419 Phase 4 Methylphenidate
6 Effects of 800mg of Rhodiola Rosea in Attention in Adults With Attention-Deficit/Hyperactivity Disorder Unknown status NCT02737033 Phase 4 Rhodiola;Placebo
7 A Cognitive Behavioral Therapy Group Intervention for Adolescents With Attention-Deficit / Hyperactivity Disorder Unknown status NCT02566824 Phase 4 Methylphenidate or amphetamine product
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 Aggressive Behaviour in Children With Tourette's Syndrome (TS) and Comorbid Attention Deficit Hyperactivity Disorder (ADHD) Unknown status NCT00152750 Phase 4 APO-clonidine
10 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
11 Functional Brain Markers and Predictors of Treatment Response Associated With Norepinephrine System Genes in ADHD Unknown status NCT00862108 Phase 4 Methylphenidate
12 A 14 Week, Randomized, Placebo-Controlled Cross-Over Study of Methylphenidate Hydrochloride Controlled Release Capsules in Adult ADHD With and Without Anxiety Disorder Comorbidity Unknown status NCT03785223 Phase 4 Methylphenidate Hydrochloride Controlled-Release Capsules;Placebo Capsule
13 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
14 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
15 Effects of Expectation, Medication and Placebo on Objective and Self-rated Performance During the Quantified Behavior Test in Patients With Untreated ADHD and Substance Use Disorder Unknown status NCT02477280 Phase 4 Methylphenidate;Placebo
16 Effects of a Probiotic Supplement on Symptoms of ADHD and Anxiety in Children Unknown status NCT02545634 Phase 4
17 Study of Associated Gene Polymorphisms With Atomoxetine Response Prediction in ADHD Treatment Unknown status NCT01339286 Phase 4 atomoxetine
18 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
19 Early Interventions in Children With Attention Deficit/Hyperactivity Disorder: Randomized Controlled Trial Comparing Methylphenidate Parental Training in Treating Preschool Children With Attention Deficit / Hyperactivity Disorder Completed NCT02807870 Phase 4 Methylphenidate;Placebo pill
20 Influence of Stimulant Medication on Brain Processes for Decision Making in Attention Deficit Hyperactivity Disorder Completed NCT01831622 Phase 4 Ritalin;Placebo
21 The Role of Adverse Environment Factors, Family Functioning and Parental Psychopathology in the Response to Treatment With Methylphenidate in Children and Adolescents With Attention Deficit/Hyperactivity Disorder Completed NCT00773916 Phase 4 Methylphenidate
22 Neurophysiology of Attention-Deficit/Hyperactivity Disorder (ADHD) and Comorbid Dyslexia: Functional Magnetic Resonance Imaging (fMRI) Measures of Brain Activation During Attention and Reading Tasks Pre- and Post-Atomoxetine Treatment Completed NCT00716274 Phase 4 Atomoxetine;Placebo
23 A Phase IV, Real World, Open-label, Multi-centre Study on the Use of FOQUEST® (Methylphenidate Hydrochloride Controlled-release Capsules) for the Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD) in Pediatric and Adult Patients Completed NCT04152629 Phase 4 Methylphenidate Hydrochloride;Lisdexamfetamine Dimesylate
24 A Multi-center Randomized Parallel Group Study Evaluating Treatment Outcomes of Concerta (Extended Release Methylphenidate) and Strattera (Atomoxetine) in Children With Attention-deficit/Hyperactivity Disorder Completed NCT00866996 Phase 4 Methylphenidate extended-release; Atomoxetine
25 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)
26 Feasibility and Utility of Autonomic Correlates of Impulsivity in Preschool Children With Attention Deficit Hyperactivity Disorder (ADHD): Extending Translational Research Skills Completed NCT00856063 Phase 4 atomoxetine (or placebo)
27 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
28 Functional Neuroimaging of Acute Concerta Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD): Differences Across Development Completed NCT00778310 Phase 4 methylphenidate-OROS;Placebo
29 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
30 A Randomized, Double Blind Comparison of the Effects of Atomoxetine Versus Placebo on Neuropsychological Outcomes Across the Day in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) by Use of a Computer Based Continuous Performance Test (cb CPT) Completed NCT00546910 Phase 4 Atomoxetine;Placebo
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 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
33 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
34 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
35 An Open, Self-Controlled, Prospective Study of Concerta on Cognitive Functions, Efficacy and Tolerance in the Pediatric Patients With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT01933880 Phase 4 Osmotic Release Oral System Methylphenidate Hydrochloride (OROS-MPH)
36 Quillivant XR in Children With Attention Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD): A Pilot Study Completed NCT02255565 Phase 4 Very Low Dose Quillivant XR;Low Dose Quillivant XR;Moderate Dose Quillivant XR
37 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) Completed NCT02683265 Phase 4 Aptensio XR;Placebo
38 Treatments for Fathers With Attention Deficit/Hyperactivity Disorder (ADHD) and Their At-Risk Children (Fathers Too) Completed NCT02675400 Phase 4 Vyvanse;Methylphenidate
39 A Randomized, Controlled, Open-Label Comparison Study of the Efficacy and Safety of Slow Transitioning Compared With Fast Transitioning From a Stimulant Medication to Atomoxetine in Pediatric and Adolescent Outpatients With DSM-IV Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT00760747 Phase 4 Atomoxetine
40 An In Depth Cardiovascular Study of Lisdexamfetamine (LDX; Vyvanse) in Healthy and Treated Hypertensive Adults With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT00753012 Phase 4 Lisdexamfetamine
41 The Effective and Tolerable Titration Scheme and Dosage in Children With Attention-deficit Hyperactivity Disorder Treated With OROS-Methylphenidate Completed NCT00518232 Phase 4 OROS-methylphenidate
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 A Randomized, Double-Blind Comparison of Atomoxetine Versus Placebo in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder and Comorbid Oppositional Defiant Disorder Completed NCT00406354 Phase 4 Atomoxetine;Placebo
44 An Open-Label Study of Naltrexone in Adults With Attention Deficit Hyperactivity Disorder. Completed NCT01873729 Phase 4 Naltrexone
45 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
46 Neurobiological Basis of Response to Guanfacine Extended Release in Children and Adolescents With Attention-deficit/Hyperactivity Disorder (ADHD): an Functional Magnetic Resonance Imaging(fMRI) Study of Brain Activation Pre and Post Treatment Completed NCT01709695 Phase 4 Guanfacine Hydrochloride XR;Placebo
47 A Phase IV, Multi-center, Open-label Study of DAYTRANA (Methylphenidate Transdermal System [MTS]) to Characterize the Dermal Reactions in Pediatric Patients Aged 6-12 With Attention Deficit/Hyperactivity Disorder (ADHD). Completed NCT00434213 Phase 4 Daytrana
48 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
49 Long-term Effects of Medication for Attention Deficit Hyperactivity Disorder (ADHD) in Children and Adolescents on Cognition, Everyday Function and Quality of Life Completed NCT03250013 Phase 4 ADHD medications
50 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]

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...

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

# Genetic test Affiliating Genes
1 Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome 28 POLR3A POLR3B

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

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

MalaCards : Eye, Brain, Prefrontal Cortex, Cingulate Cortex, Whole Blood, Cortex, Skin
ODiseA: Peripheral Nerve, Brain

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

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

(show top 50) (show all 243)
# Title Authors PMID Year
1
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 62 57 5
21855841 2011
2
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. 62 57 5
20640464 2010
3
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. 62 57 5
17159124 2006
4
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 57 5
22036171 2011
5
Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? 57 5
12605447 2003
6
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report. 62 5
29618326 2018
7
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. 62 57
17712733 2007
8
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia. 5
33491183 2021
9
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 5
32214227 2020
10
POLR3A-related spastic ataxia: new mutations and a look into the phenotype. 5
31637490 2020
11
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. 5
28459997 2017
12
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. 57
25339210 2014
13
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22. 57
20721593 2011
14
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. 57
15851747 2005
15
Clear cell sarcoma of tendons and aponeurosis--a case report. 5
614258 1977
16
Associations of muscle volume of individual human plantar intrinsic foot muscles with morphological profiles of the foot. 62
36001459 2022
17
Tachycardiomyopathy entails a dysfunctional pattern of interrelated mitochondrial functions. 62
36068416 2022
18
Expanding Bismuth Trihalide Coordination Chemistry with Trimethyltriazacyclohexane and Trimethyltriazacyclononane. 62
35861795 2022
19
Demographic differences in willingness to share electronic health records in the All of Us Research Program. 62
35472083 2022
20
Clinical and imaging characteristics of 4H syndrome: A case report. 62
34953043 2022
21
Associations between the size of individual plantar intrinsic and extrinsic foot muscles and toe flexor strength. 62
35313927 2022
22
Edema of the Ligamentum Teres as a Novel MRI Marker for Non-Traumatic Painful Hip Pathology: A Retrospective Observational Study. 62
35475106 2022
23
Level and contributing factors of health data quality and information use in two districts in Northwest Ethiopia: social-ecological perspective. 62
34972511 2021
24
Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by Ibuprofen. 62
35076634 2021
25
Fine-wire electromyography of the transverse head of adductor hallucis during locomotion. 62
33497968 2021
26
Adequately Iodized Salt Utilization and Associated Factors among Households in Tach Armachio District, Northwest Ethiopia: A Community-Based Cross-Sectional Study. 62
33953976 2021
27
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations. 62
33134517 2020
28
Cytotoxic (cis,cis-1,3,5-triaminocyclohexane)ruthenium(II)-diphosphine complexes; evidence for covalent binding and intercalation with DNA. 62
33021299 2020
29
Actionable Ventricular Tachycardia During In-Hospital ECG Monitoring and Its Impact on Alarm Fatigue. 62
32102049 2020
30
Rural children remain more at risk of acute malnutrition following exit from community based management of acute malnutrition program in South Gondar Zone, Amhara Region, Ethiopia: a comparative cross-sectional study. 62
32071802 2020
31
Determinants of enrollment in community based health insurance among Households in Tach-Armachiho Woreda, North Gondar, Ethiopia, 2019. 62
32866152 2020
32
Goiter and Its Associated Factors among Adolescent High School Girls at Tach Armachiho District, Northwest Ethiopia: An Institution-Based Cross-Sectional Study. 62
33149948 2020
33
Thermal C-O coupling reactions of Ta methylene clusters [TanCH2]+ (n = 1, 4) with O2. 62
31513196 2019
34
Characterization and Reactivity of a Tetrahedral Copper(II) Alkylperoxido Complex. 62
31199532 2019
35
[Differences in early visual cerebral processing in children with attention deficit / hyperactivity disorders with predominance of no attention]. 62
30776280 2019
36
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. 62
30323018 2018
37
Representation Learning Approaches to Detect False Arrhythmia Alarms from ECG Dynamics. 62
31723938 2018
38
Leukodystrophy with disorders of sex development due to WT1 mutations. 62
29801916 2018
39
Fliposomes: trans-2-aminocyclohexanol-based amphiphiles as pH-sensitive conformational switches of liposome membrane - a structure-activity relationship study. 62
29111431 2018
40
Universal correction of enzymatic sequence bias reveals molecular signatures of protein/DNA interactions. 62
29126307 2018
41
[Application of BARS scale in children with ataxia in a child rehabilitation center in Chiapas, Mexico]. 62
29190864 2017
42
Managing childhood and adolescent attention-deficit/hyperactivity disorder (ADHD) with exercise: A systematic review. 62
28917364 2017
43
Targeted high-resolution quadrupole-Orbitrap mass spectrometry analyses reveal a significant reduction of tachykinin and opioid neuropeptides level in PC1 and PC2 mutant mouse spinal cords. 62
28476408 2017
44
Tetrahedral Copper(II) Complexes with a Labile Coordination Site Supported by a Tris-tetramethylguanidinato Ligand. 62
28753281 2017
45
Morphology variation of Lutzomyia cruciata eggs (Diptera: Psychodidae: Phlebotominae) in southern Mexico. 62
28609907 2017
46
Toward steric control of guest binding modality: a cationic Co(ii) complex exhibiting cation binding and zero-field relaxation. 62
28357421 2017
47
A Systematic Review of the Use of Bupropion for Attention-Deficit/Hyperactivity Disorder in Children and Adolescents. 62
27813651 2017
48
Paper-based microfluidic devices by asymmetric calendaring. 62
28798839 2017
49
Comparison of auditory comprehension skills in children with cochlear implant and typically developing children. 62
27863624 2016
50
A novel three-axis cylindrical hohlraum designed for inertial confinement fusion ignition. 62
27703250 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:

5 (show top 50) (show all 256)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR3A NM_007055.4(POLR3A):c.2325C>G (p.Asn775Lys) SNV Pathogenic
638561 rs1589310432 GRCh37: 10:79761989-79761989
GRCh38: 10:78002231-78002231
2 POLR3A NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter) SNV Pathogenic
1030186 rs928051665 GRCh37: 10:79741938-79741938
GRCh38: 10:77982180-77982180
3 POLR3A NM_007055.4(POLR3A):c.2323_2329del (p.Asn775fs) DEL Pathogenic
1034345 rs1847364209 GRCh37: 10:79761985-79761991
GRCh38: 10:78002227-78002233
4 POLR3A NM_007055.4(POLR3A):c.3243-1G>A SNV Pathogenic
436361 rs1554837782 GRCh37: 10:79744057-79744057
GRCh38: 10:77984299-77984299
5 POLR3A NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) SNV Pathogenic
430255 rs780839834 GRCh37: 10:79764602-79764602
GRCh38: 10:78004844-78004844
6 POLR3A NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter) SNV Pathogenic
684772 rs1472614573 GRCh37: 10:79769711-79769711
GRCh38: 10:78009953-78009953
7 POLR3A NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) SNV Pathogenic
684773 rs769791060 GRCh37: 10:79781438-79781438
GRCh38: 10:78021680-78021680
8 POLR3A NM_007055.4(POLR3A):c.601del (p.Ile201fs) DEL Pathogenic
684774 rs777280350 GRCh37: 10:79784351-79784351
GRCh38: 10:78024593-78024593
9 POLR3A NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) SNV Pathogenic
41240 rs267608673 GRCh37: 10:79781375-79781375
GRCh38: 10:78021617-78021617
10 POLR3A NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) SNV Pathogenic
31143 rs267608670 GRCh37: 10:79767519-79767519
GRCh38: 10:78007761-78007761
11 POLR3A NM_007055.4(POLR3A):c.1909+18G>A SNV Pathogenic
31144 rs267608677 GRCh37: 10:79769277-79769277
GRCh38: 10:78009519-78009519
12 POLR3A NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) SNV Pathogenic
Likely Pathogenic
31145 rs267608671 GRCh37: 10:79759801-79759801
GRCh38: 10:78000043-78000043
13 POLR3A NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) SNV Pathogenic
31147 rs267608678 GRCh37: 10:79784801-79784801
GRCh38: 10:78025043-78025043
14 POLR3A NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) SNV Pathogenic
31148 rs267608681 GRCh37: 10:79753052-79753052
GRCh38: 10:77993294-77993294
15 POLR3A NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) SNV Pathogenic
31149 rs267608682 GRCh37: 10:79745719-79745719
GRCh38: 10:77985961-77985961
16 POLR3A NM_007055.4(POLR3A):c.2617-1G>A SNV Pathogenic
31146 rs181087667 GRCh37: 10:79753126-79753126
GRCh38: 10:77993368-77993368
17 POLR3A NM_007055.4(POLR3A):c.1771-6C>G SNV Pathogenic
976718 rs115020338 GRCh37: 10:79769439-79769439
GRCh38: 10:78009681-78009681
18 POLR3B NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) SNV Pathogenic
31166 rs138249161 GRCh37: 12:106826199-106826199
GRCh38: 12:106432421-106432421
19 POLR3A NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) DEL Pathogenic
684775 rs747683665 GRCh37: 10:79742422-79742422
GRCh38: 10:77982664-77982664
20 POLR3A NM_007055.4(POLR3A):c.2554del (p.Met852fs) DEL Likely Pathogenic
1184600 GRCh37: 10:79759801-79759801
GRCh38: 10:78000043-78000043
21 POLR3A NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) SNV Likely Pathogenic
617891 rs774007232 GRCh37: 10:79767529-79767529
GRCh38: 10:78007771-78007771
22 POLR3A NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser) SNV Likely Pathogenic
1029125 rs771786550 GRCh37: 10:79761964-79761964
GRCh38: 10:78002206-78002206
23 POLR3B NM_018082.6(POLR3B):c.2045G>A (p.Arg682Lys) SNV Likely Pathogenic
1685410 GRCh37: 12:106838330-106838330
GRCh38: 12:106444552-106444552
24 POLR3B NM_018082.6(POLR3B):c.1263+2T>C SNV Likely Pathogenic
488794 rs774526181 GRCh37: 12:106821138-106821138
GRCh38: 12:106427360-106427360
25 POLR3A NM_007055.4(POLR3A):c.1910-1G>A SNV Likely Pathogenic
1333236 GRCh37: 10:79767625-79767625
GRCh38: 10:78007867-78007867
26 POLR3A NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln) SNV Likely Pathogenic
1064452 GRCh37: 10:79741219-79741219
GRCh38: 10:77981461-77981461
27 POLR3A NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln) SNV Likely Pathogenic
1029126 rs374831450 GRCh37: 10:79760789-79760789
GRCh38: 10:78001031-78001031
28 POLR3A NM_007055.4(POLR3A):c.1909+22G>A SNV Conflicting Interpretations Of Pathogenicity
445922 rs191875469 GRCh37: 10:79769273-79769273
GRCh38: 10:78009515-78009515
29 POLR3A NM_007055.4(POLR3A):c.1771-7C>G SNV Conflicting Interpretations Of Pathogenicity
449556 rs201314157 GRCh37: 10:79769440-79769440
GRCh38: 10:78009682-78009682
30 POLR3A NM_007055.4(POLR3A):c.1649A>G (p.Tyr550Cys) SNV Conflicting Interpretations Of Pathogenicity
301070 rs886047289 GRCh37: 10:79769743-79769743
GRCh38: 10:78009985-78009985
31 POLR3A NM_007055.4(POLR3A):c.1771-5C>G SNV Uncertain Significance
878954 rs199733994 GRCh37: 10:79769438-79769438
GRCh38: 10:78009680-78009680
32 POLR3A NM_007055.4(POLR3A):c.774T>C (p.Pro258=) SNV Uncertain Significance
878418 rs144576999 GRCh37: 10:79782014-79782014
GRCh38: 10:78022256-78022256
33 POLR3A NM_007055.4(POLR3A):c.1113C>T (p.Pro371=) SNV Uncertain Significance
729245 rs535797845 GRCh37: 10:79781376-79781376
GRCh38: 10:78021618-78021618
34 RPS24, POLR3A NM_007055.4(POLR3A):c.-35C>G SNV Uncertain Significance
368925 rs201700756 GRCh37: 10:79789200-79789200
GRCh38: 10:78029442-78029442
35 POLR3A NM_007055.4(POLR3A):c.2976C>T (p.Asn992=) SNV Uncertain Significance
301051 rs143461869 GRCh37: 10:79745843-79745843
GRCh38: 10:77986085-77986085
36 POLR3A NM_007055.4(POLR3A):c.2686G>A (p.Asp896Asn) SNV Uncertain Significance
1030182 rs773941193 GRCh37: 10:79753056-79753056
GRCh38: 10:77993298-77993298
37 POLR3A NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) SNV Uncertain Significance
41241 rs267608668 GRCh37: 10:79769718-79769718
GRCh38: 10:78009960-78009960
38 POLR3B NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) SNV Uncertain Significance
285205 rs199504211 GRCh37: 12:106821117-106821117
GRCh38: 12:106427339-106427339
39 POLR3A NM_007055.4(POLR3A):c.2916C>T (p.Phe972=) SNV Uncertain Significance
877337 rs763107166 GRCh37: 10:79745903-79745903
GRCh38: 10:77986145-77986145
40 POLR3A NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=) SNV Uncertain Significance
735051 rs149961298 GRCh37: 10:79741255-79741255
GRCh38: 10:77981497-77981497
41 POLR3A NM_007055.4(POLR3A):c.3698G>A (p.Arg1233Gln) SNV Uncertain Significance
878323 rs769323808 GRCh37: 10:79741973-79741973
GRCh38: 10:77982215-77982215
42 POLR3A NM_007055.4(POLR3A):c.1910-13A>G SNV Uncertain Significance
878952 rs375882550 GRCh37: 10:79767637-79767637
GRCh38: 10:78007879-78007879
43 POLR3A NM_007055.4(POLR3A):c.1824C>T (p.Ser608=) SNV Uncertain Significance
878953 rs376895980 GRCh37: 10:79769380-79769380
GRCh38: 10:78009622-78009622
44 POLR3A NM_007055.4(POLR3A):c.282T>C (p.His94=) SNV Uncertain Significance
879008 rs201709900 GRCh37: 10:79785416-79785416
GRCh38: 10:78025658-78025658
45 POLR3A NM_007055.4(POLR3A):c.186G>A (p.Thr62=) SNV Uncertain Significance
715238 rs140901011 GRCh37: 10:79785512-79785512
GRCh38: 10:78025754-78025754
46 POLR3A NM_007055.4(POLR3A):c.2604G>A (p.Thr868=) SNV Uncertain Significance
301054 rs142834115 GRCh37: 10:79759751-79759751
GRCh38: 10:77999993-77999993
47 POLR3A NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) SNV Uncertain Significance
203362 rs41274600 GRCh37: 10:79742569-79742569
GRCh38: 10:77982811-77982811
48 POLR3A NM_007055.4(POLR3A):c.2493A>T (p.Lys831Asn) SNV Uncertain Significance
1030181 rs1847342705 GRCh37: 10:79759862-79759862
GRCh38: 10:78000104-78000104
49 POLR3A NM_007055.4(POLR3A):c.3283G>A (p.Ala1095Thr) SNV Uncertain Significance
1030184 rs1468734464 GRCh37: 10:79744016-79744016
GRCh38: 10:77984258-77984258
50 POLR3A NM_007055.4(POLR3A):c.3677T>C (p.Leu1226Pro) SNV Uncertain Significance
1030185 rs1370860604 GRCh37: 10:79741994-79741994
GRCh38: 10:77982236-77982236

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 rs1375717376
11 POLR3A p.Trp310Cys VAR_072339 rs1217230904
12 POLR3A p.Ala387Gly VAR_072340 rs1307896663
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
12.13 POLR3K POLR3H POLR3GL POLR3E POLR3B POLR3A
2
Show member pathways
11.62 POLR3K POLR3H POLR3GL POLR3E POLR3B POLR3A
3
Show member pathways
11.59 POLR3K POLR3H POLR3GL POLR3E POLR3B POLR3A
4 11.48 POLR3K POLR3H POLR3E POLR3B 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 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 9.56 AIMP2 AIMP1
2 eukaryotic translation initiation factor 2B complex GO:0005851 9.46 EIF2B4 EIF2B3
3 RNA polymerase III complex GO:0005666 9.4 POLR3K POLR3H POLR3GL POLR3E POLR3B POLR3A
4 DNA-directed RNA polymerase complex GO:0000428 9.35 POLR3K POLR3H POLR3E 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 defense response to virus GO:0051607 9.96 POLR3A POLR3B POLR3E POLR3H POLR3K
2 translation GO:0006412 9.88 EIF2B4 EIF2B3 AIMP2 AIMP1
3 immune system process GO:0002376 9.77 POLR3K POLR3H POLR3E POLR3B POLR3A
4 myelination GO:0042552 9.72 PLP1 HYCC1 EIF2B4
5 transcription by RNA polymerase III GO:0006383 9.63 POLR3K POLR3H POLR3GL
6 positive regulation of calcium ion transmembrane transport GO:1904427 9.26 PLP1 GJC2
7 DNA-templated transcription GO:0006351 9.23 POLR3K POLR3H POLR3E 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 9.26 POLR3B POLR3A EIF2B3
2 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.23 POLR3K POLR3H POLR3B POLR3A

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....