HLD7
MCID: LKD017
MIFTS: 47

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 58 76 13
Leukodystrophy with Oligodontia 12 60 76
Hld7 58 12 76
Hypomyelinating Leukodystrophy 7 with or Without Oligodontia and-or Hypogonadotropic Hypogonadism 12 15
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 58 74
Hypomyelination-Cerebellar Atrophy-Hypoplasia of the Corpus Callosum Syndrome 12 60
Tremor-Ataxia-Central Hypomyelination Syndrome 12 60
Dentoleukoencephalopathy 12 60
Tach Syndrome 12 60
Addh 58 76
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism 4h Syndrome 76
Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome 60
Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition 58
Ataxia-Delayed Dentition-Hypomyelination Syndrome; Odontoleukodystrophy 12
Leukoencephalopathy Hypomyelinating with Ataxia and Delayed Dentition 76
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome 12
Ataxia, Delayed Dentition, and Hypomyelination; Addh 58
Ataxia-Delayed Dentition-Hypomyelination Syndrome 60
Leukodystrophy, Dysmyelinating, with Oligodontia 74
Ataxia, Delayed Dentition, and Hypomyelination 58
Ataxia Delayed Dentition and Hypomyelination 76
Tremor-Ataxia with Central Hypomyelination 76
Attention Deficit Hyperactivity Disorder 74
Odontoleukodystrophy 60
4h Syndrome 58
Tach 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 58 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 pol iii-related leukodystrophies and 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 Gene Expression and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Affiliated tissues include eye and brain, and related phenotypes are delayed puberty and nystagmus

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

UniProtKB/Swiss-Prot : 76 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 all 30)
# Related Disease Score Top Affiliating Genes
1 pol iii-related leukodystrophies 32.1 POLR3A POLR3B
2 hypogonadism 29.7 POLR3A POLR3B
3 hypomyelinating leukoencephalopathy 29.6 POLR3A POLR3B
4 leukodystrophy 29.3 AIMP1 POLR3A POLR3B
5 polr3-related leukodystrophy 11.8
6 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.2
7 boutonneuse fever 10.3
8 conduct disorder 10.3
9 spotted fever 10.2
10 degos 'en cocarde' erythrokeratoderma 10.1
11 tremor 10.1
12 learning disability 10.1
13 hypogonadotropic hypogonadism 10.1
14 hypogonadotropism 10.1
15 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.0
16 ataxia and polyneuropathy, adult-onset 10.0
17 african tick-bite fever 10.0
18 exanthem 10.0
19 q fever 10.0
20 keratomalacia 10.0
21 dystonia 10.0
22 meningitis 10.0
23 neonatal meningitis 10.0
24 pityriasis rotunda 10.0
25 cataract 10.0
26 growth hormone deficiency 10.0
27 leukodystrophy, hypomyelinating, 3 9.8 AIMP1 POLR3A
28 cerebral degeneration 9.6 POLR3A POLR3B
29 tooth agenesis 9.4 POLR3A POLR3B
30 hypomyelinating leukodystrophy 9.4 AIMP1 POLR3A POLR3B

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:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed puberty 60 33 hallmark (90%) Frequent (79-30%) HP:0000823
2 nystagmus 60 33 occasional (7.5%) Frequent (79-30%) HP:0000639
3 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
4 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
5 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
6 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
7 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
8 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
9 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
10 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
11 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
12 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
13 intention tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002080
14 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
15 hypogonadotrophic hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000044
16 cerebellar hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001321
17 clumsiness 60 33 frequent (33%) Frequent (79-30%) HP:0002312
18 hypodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000668
19 postural tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002174
20 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
21 leukodystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002415
22 vertical supranuclear gaze palsy 60 33 frequent (33%) Frequent (79-30%) HP:0000511
23 cns hypomyelination 60 33 frequent (33%) Frequent (79-30%) HP:0003429
24 oligodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000677
25 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
26 abnormality of ocular smooth pursuit 60 33 frequent (33%) Frequent (79-30%) HP:0000617
27 abnormality of the basal ganglia 60 33 frequent (33%) Frequent (79-30%) HP:0002134
28 autonomic bladder dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0005341
29 positive romberg sign 60 33 frequent (33%) Frequent (79-30%) HP:0002403
30 high myoinositol in brain by mrs 60 33 frequent (33%) Frequent (79-30%) HP:0025460
31 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
32 peripheral neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009830
33 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
34 impaired vibration sensation in the lower limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002166
35 drooling 60 33 occasional (7.5%) Occasional (29-5%) HP:0002307
36 impaired distal proprioception 60 33 occasional (7.5%) Occasional (29-5%) HP:0006858
37 deeply set eye 60 33 very rare (1%) Very rare (<4-1%) HP:0000490
38 focal seizures, afebril 60 33 very rare (1%) Very rare (<4-1%) HP:0040168
39 spasticity 60 33 Frequent (79-30%) HP:0001257
40 ataxia 60 Frequent (79-30%)
41 dysarthria 33 HP:0001260
42 cerebellar atrophy 33 HP:0001272
43 upper motor neuron dysfunction 60 Frequent (79-30%)
44 abnormal upper motor neuron morphology 33 HP:0002127

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
myopia
optic atrophy (in some patients)
abnormal smooth pursuit
vertical gaze limitation

Growth Height:
short stature

Abdomen Gastrointestinal:
dysphagia (in some patients)

Genitourinary Bladder:
bladder dysfunction (rare)

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

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

Head And Neck Mouth:
drooling (in some patients)

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

Clinical features from OMIM:

607694

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


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

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

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:

42
Eye, Brain

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

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

# Title Authors Year
1
Tremor-ataxia with central hypomyelination (TACH): dystonia as a new clinical feature. ( 23208740 )
2012
2
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. ( 21855841 )
2011
3
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. ( 22036171 )
2011
4
Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. ( 20640464 )
2010
5
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. ( 17159124 )
2006
6
Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? ( 12605447 )
2003

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

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

76 (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

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

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLR3A NM_007055.3(POLR3A): c.2015G> A (p.Gly672Glu) single nucleotide variant Pathogenic rs267608670 GRCh37 Chromosome 10, 79767519: 79767519
2 POLR3A NM_007055.3(POLR3A): c.2015G> A (p.Gly672Glu) single nucleotide variant Pathogenic rs267608670 GRCh38 Chromosome 10, 78007761: 78007761
3 POLR3A NM_007055.3(POLR3A): c.1909+18G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608677 GRCh37 Chromosome 10, 79769277: 79769277
4 POLR3A NM_007055.3(POLR3A): c.1909+18G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608677 GRCh38 Chromosome 10, 78009519: 78009519
5 POLR3A NM_007055.3(POLR3A): c.2554A> G (p.Met852Val) single nucleotide variant Likely pathogenic rs267608671 GRCh37 Chromosome 10, 79759801: 79759801
6 POLR3A NM_007055.3(POLR3A): c.2554A> G (p.Met852Val) single nucleotide variant Likely pathogenic rs267608671 GRCh38 Chromosome 10, 78000043: 78000043
7 POLR3A NM_007055.3(POLR3A): c.2617-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs181087667 GRCh37 Chromosome 10, 79753126: 79753126
8 POLR3A NM_007055.3(POLR3A): c.2617-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs181087667 GRCh38 Chromosome 10, 77993368: 77993368
9 POLR3A NM_007055.3(POLR3A): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs267608678 GRCh37 Chromosome 10, 79784801: 79784801
10 POLR3A NM_007055.3(POLR3A): c.418C> T (p.Arg140Ter) single nucleotide variant Pathogenic rs267608678 GRCh38 Chromosome 10, 78025043: 78025043
11 POLR3A NM_007055.3(POLR3A): c.2690T> A (p.Ile897Asn) single nucleotide variant Pathogenic rs267608681 GRCh37 Chromosome 10, 79753052: 79753052
12 POLR3A NM_007055.3(POLR3A): c.2690T> A (p.Ile897Asn) single nucleotide variant Pathogenic rs267608681 GRCh38 Chromosome 10, 77993294: 77993294
13 POLR3A NM_007055.3(POLR3A): c.3013C> T (p.Arg1005Cys) single nucleotide variant Pathogenic rs267608682 GRCh37 Chromosome 10, 79745719: 79745719
14 POLR3A NM_007055.3(POLR3A): c.3013C> T (p.Arg1005Cys) single nucleotide variant Pathogenic rs267608682 GRCh38 Chromosome 10, 77985961: 77985961
15 POLR3B NM_018082.5(POLR3B): c.1568T> A (p.Val523Glu) single nucleotide variant Pathogenic rs138249161 GRCh37 Chromosome 12, 106826199: 106826199
16 POLR3B NM_018082.5(POLR3B): c.1568T> A (p.Val523Glu) single nucleotide variant Pathogenic rs138249161 GRCh38 Chromosome 12, 106432421: 106432421
17 POLR3A NM_007055.3(POLR3A): c.1114G> A (p.Asp372Asn) single nucleotide variant Pathogenic rs267608673 GRCh37 Chromosome 10, 79781375: 79781375
18 POLR3A NM_007055.3(POLR3A): c.1114G> A (p.Asp372Asn) single nucleotide variant Pathogenic rs267608673 GRCh38 Chromosome 10, 78021617: 78021617
19 POLR3A NM_007055.3(POLR3A): c.1674C> G (p.Phe558Leu) single nucleotide variant Pathogenic rs267608668 GRCh37 Chromosome 10, 79769718: 79769718
20 POLR3A NM_007055.3(POLR3A): c.1674C> G (p.Phe558Leu) single nucleotide variant Pathogenic rs267608668 GRCh38 Chromosome 10, 78009960: 78009960
21 POLR3A NM_007055.3(POLR3A): c.1907C> A (p.Ser636Tyr) single nucleotide variant Pathogenic rs267608676 GRCh37 Chromosome 10, 79769297: 79769297
22 POLR3A NM_007055.3(POLR3A): c.1907C> A (p.Ser636Tyr) single nucleotide variant Pathogenic rs267608676 GRCh38 Chromosome 10, 78009539: 78009539
23 POLR3A NM_007055.3(POLR3A): c.2171G> A (p.Cys724Tyr) single nucleotide variant Pathogenic rs267608679 GRCh37 Chromosome 10, 79764550: 79764550
24 POLR3A NM_007055.3(POLR3A): c.2171G> A (p.Cys724Tyr) single nucleotide variant Pathogenic rs267608679 GRCh38 Chromosome 10, 78004792: 78004792
25 POLR3A NM_007055.3(POLR3A): c.2324A> T (p.Asn775Ile) single nucleotide variant Pathogenic rs267608672 GRCh37 Chromosome 10, 79761990: 79761990
26 POLR3A NM_007055.3(POLR3A): c.2324A> T (p.Asn775Ile) single nucleotide variant Pathogenic rs267608672 GRCh38 Chromosome 10, 78002232: 78002232
27 POLR3A NM_007055.3(POLR3A): c.2830G> T (p.Glu944Ter) single nucleotide variant Pathogenic rs267608674 GRCh37 Chromosome 10, 79750883: 79750883
28 POLR3A NM_007055.3(POLR3A): c.2830G> T (p.Glu944Ter) single nucleotide variant Pathogenic rs267608674 GRCh38 Chromosome 10, 77991125: 77991125
29 POLR3A NM_007055.3(POLR3A): c.3014G> A (p.Arg1005His) single nucleotide variant Pathogenic rs200118797 GRCh37 Chromosome 10, 79745718: 79745718
30 POLR3A NM_007055.3(POLR3A): c.3014G> A (p.Arg1005His) single nucleotide variant Pathogenic rs200118797 GRCh38 Chromosome 10, 77985960: 77985960
31 POLR3A NM_007055.3(POLR3A): c.3742_3743insACC (p.Ser1248delinsTyrPro) insertion Pathogenic rs267608669 GRCh37 Chromosome 10, 79741928: 79741929
32 POLR3A NM_007055.3(POLR3A): c.3742_3743insACC (p.Ser1248delinsTyrPro) insertion Pathogenic rs267608669 GRCh38 Chromosome 10, 77982170: 77982171
33 POLR3A NM_007055.3(POLR3A): c.3991G> A (p.Ala1331Thr) single nucleotide variant Pathogenic rs267608680 GRCh37 Chromosome 10, 79739932: 79739932
34 POLR3A NM_007055.3(POLR3A): c.3991G> A (p.Ala1331Thr) single nucleotide variant Pathogenic rs267608680 GRCh38 Chromosome 10, 77980174: 77980174
35 POLR3A NM_007055.3(POLR3A): c.4006C> T (p.Gln1336Ter) single nucleotide variant Pathogenic rs267608675 GRCh37 Chromosome 10, 79739917: 79739917
36 POLR3A NM_007055.3(POLR3A): c.4006C> T (p.Gln1336Ter) single nucleotide variant Pathogenic rs267608675 GRCh38 Chromosome 10, 77980159: 77980159
37 POLR3A NM_007055.3(POLR3A): c.3436G> A (p.Ala1146Thr) single nucleotide variant Uncertain significance rs41274600 GRCh38 Chromosome 10, 77982811: 77982811
38 POLR3A NM_007055.3(POLR3A): c.3436G> A (p.Ala1146Thr) single nucleotide variant Uncertain significance rs41274600 GRCh37 Chromosome 10, 79742569: 79742569
39 POLR3B NM_018082.5(POLR3B): c.1244T> C (p.Met415Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199504211 GRCh37 Chromosome 12, 106821117: 106821117
40 POLR3B NM_018082.5(POLR3B): c.1244T> C (p.Met415Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199504211 GRCh38 Chromosome 12, 106427339: 106427339
41 POLR3A NM_007055.3(POLR3A): c.3243-1G> A single nucleotide variant Pathogenic rs1554837782 GRCh37 Chromosome 10, 79744057: 79744057
42 POLR3A NM_007055.3(POLR3A): c.3243-1G> A single nucleotide variant Pathogenic rs1554837782 GRCh38 Chromosome 10, 77984299: 77984299
43 POLR3B NM_018082.5(POLR3B): c.1263+2T> C single nucleotide variant Likely pathogenic rs774526181 GRCh37 Chromosome 12, 106821138: 106821138
44 POLR3B NM_018082.5(POLR3B): c.1263+2T> C single nucleotide variant Likely pathogenic rs774526181 GRCh38 Chromosome 12, 106427360: 106427360
45 POLR3A NM_007055.3(POLR3A): c.2287G> A (p.Ala763Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 79762027: 79762027
46 POLR3A NM_007055.3(POLR3A): c.2287G> A (p.Ala763Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 78002269: 78002269

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
12.87 AIMP1 POLR3A POLR3B
2
Show member pathways
11.82 POLR3A POLR3B
3
Show member pathways
11.4 POLR3A POLR3B
4
Show member pathways
11.03 POLR3A POLR3B

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

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

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

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 9.32 POLR3A POLR3B
2 transcription, DNA-templated GO:0006351 9.26 POLR3A POLR3B
3 transcription by RNA polymerase III GO:0006383 9.16 POLR3A POLR3B
4 positive regulation of interferon-beta production GO:0032728 8.96 POLR3A POLR3B
5 defense response to virus GO:0051607 8.8 AIMP1 POLR3A POLR3B

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 POLR3A POLR3B
2 DNA-directed 5'-3' RNA polymerase activity GO:0003899 8.96 POLR3A POLR3B
3 RNA polymerase III activity GO:0001056 8.62 POLR3A POLR3B

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....