HLD8
MCID: LKD018
MIFTS: 39

Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (HLD8)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

MalaCards integrated aliases for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

Name: Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 57 73 71
Hypomyelinating Leukodystrophy 8 with or Without Oligodontia and-or Hypogonadotropic Hypogonadism 11 28 5 14
Cerebellar Hypoplasia with Endosteal Sclerosis 57 19 73
Hld8 57 11 73
4h Leukodystrophy 2 57 73
Leukodystrophy, Hypomyelinating, Type 8, with/without Oligodontia and/or Hypogonadotropic Hypogonadism 38
Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome 58

Characteristics:


Inheritance:

Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism: Autosomal recessive 57
Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome: Autosomal recessive 58

Prevelance:

Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
slowly progressive or nonprogressive
onset in early childhood (2 to 4 years)


Classifications:

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


External Ids:

Disease Ontology 11 DOID:0060797
OMIM® 57 614381
OMIM Phenotypic Series 57 PS312080
MeSH 43 D020279
ICD10 31 G11.1
MESH via Orphanet 44 C535353
ICD10 via Orphanet 32 Q87.8
UMLS via Orphanet 72 C1859301
Orphanet 58 ORPHA85186
UMLS 71 C3280644

Summaries for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

OMIM®: 57 Hypomyelinating leukodystrophy-8 (HLD8) is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011). See also HLD7 (607694), which has similar features and is caused by mutation in the POLR3A gene (614258) on chromosome 10q22. 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. (614381) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism, also known as hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, is related to polr3-related leukodystrophy and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, and has symptoms including tremor, dysdiadochokinesis and cerebellar ataxia. An important gene associated with Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism is POLR3B (RNA Polymerase III Subunit B), and among its related pathways/superpathways is IL12-mediated signaling events. Affiliated tissues include bone, brain and peripheral nerve, and related phenotypes are spasticity and abnormal pyramidal sign

GARD: 19 Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Orphanet: 58 Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Disease Ontology: 11 A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has material basis in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.

UniProtKB/Swiss-Prot: 73 An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism.

Related Diseases for Leukodystrophy, Hypomyelinating, 8, 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, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 polr3-related leukodystrophy 11.8
2 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 11.0
3 tooth agenesis 10.2
4 cerebellar hypoplasia 10.2
5 hypogonadism 10.2
6 charcot-marie-tooth disease, demyelinating, type 1i 10.0 POLR3B LOC100287944
7 hypomyelinating leukodystrophy 10.0
8 leukodystrophy 10.0
9 urinary tract obstruction 9.9 B2M AVPR2
10 potocki-shaffer syndrome 9.9 STAT4 B2M
11 plasmacytoma 9.7 CDKN1A B2M
12 skin melanoma 9.6 CDKN1A B2M
13 colonic benign neoplasm 9.4 DDX53 CDKN1A
14 arthritis 9.4 STAT4 CDKN1A B2M

Graphical network of the top 20 diseases related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:



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

Symptoms & Phenotypes for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

Human phenotypes related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 30 Very rare (1%) HP:0001257
2 abnormal pyramidal sign 30 Very rare (1%) HP:0007256
3 dysarthria 30 Very rare (1%) HP:0001260
4 dysphagia 30 Very rare (1%) HP:0002015
5 global developmental delay 30 Very rare (1%) HP:0001263
6 delayed speech and language development 30 Very rare (1%) HP:0000750
7 optic atrophy 30 Very rare (1%) HP:0000648
8 intellectual disability, mild 30 Very rare (1%) HP:0001256
9 growth delay 30 Very rare (1%) HP:0001510
10 delayed eruption of teeth 30 Very rare (1%) HP:0000684
11 hip dislocation 30 Very rare (1%) HP:0002827
12 intellectual disability, moderate 30 Very rare (1%) HP:0002342
13 dysmetria 30 Very rare (1%) HP:0001310
14 dystonia 30 Very rare (1%) HP:0001332
15 dysdiadochokinesis 30 Very rare (1%) HP:0002075
16 gait ataxia 30 Very rare (1%) HP:0002066
17 leukodystrophy 30 Very rare (1%) HP:0002415
18 cerebellar vermis atrophy 30 Very rare (1%) HP:0006855
19 hypoplasia of the corpus callosum 30 Very rare (1%) HP:0002079
20 intention tremor 30 Very rare (1%) HP:0002080
21 oligodontia 30 Very rare (1%) HP:0000677
22 high myopia 30 Very rare (1%) HP:0011003
23 natal tooth 30 Very rare (1%) HP:0000695
24 horizontal nystagmus 30 Very rare (1%) HP:0000666
25 cns hypomyelination 30 Very rare (1%) HP:0003429
26 impaired horizontal smooth pursuit 30 Very rare (1%) HP:0001151
27 hypogonadotropic hypogonadism 30 Very rare (1%) HP:0000044
28 hyperreflexia 30 HP:0001347
29 short stature 30 HP:0004322
30 cerebral hypomyelination 30 HP:0006808

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
myopia
abnormal smooth pursuit
vertical gaze limitation

Growth Height:
short stature

Abdomen Gastrointestinal:
dysphagia (1 patient)

Neurologic Central Nervous System:
dysarthria
tremor
intellectual disability, mild
dysmetria
dysdiadochokinesis
more
Head And Neck Teeth:
delayed eruption
hypodontia (variable)
oligodontia (variable)
malpositioning

Endocrine Features:
hypogonadotropic hypogonadism (variable)

Clinical features from OMIM®:

614381 (Updated 08-Dec-2022)

UMLS symptoms related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:


tremor; dysdiadochokinesis; cerebellar ataxia

Drugs & Therapeutics for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism

Genetic Tests for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

Genetic tests related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

# Genetic test Affiliating Genes
1 Hypomyelinating Leukodystrophy 8 with or Without Oligodontia and-or Hypogonadotropic Hypogonadism 28 POLR3B

Anatomical Context for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

Organs/tissues related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

MalaCards : Bone, Brain
ODiseA: Peripheral Nerve, Brain

Publications for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

Articles related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

(show all 12)
# Title Authors PMID Year
1
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. 62 57 5
28589944 2017
2
4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. 57 5
32319736 2020
3
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. 57 5
25339210 2014
4
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. 57 5
23355746 2013
5
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. 57 5
22036172 2011
6
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 57 5
22036171 2011
7
Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. 57 5
18851904 2009
8
Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. 62 57
15672385 2005
9
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. 57
27512013 2017
10
Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome. 57
1776639 1991
11
[Congenital cerebellar hypoplasia with bone lesions]. 57
3729252 1986
12
Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen. 62
35225888 2022

Variations for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

ClinVar genetic disease variations for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

5 (show top 50) (show all 137)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR3B NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln) SNV Pathogenic
375867 rs775141057 GRCh37: 12:106889893-106889893
GRCh38: 12:106496115-106496115
2 POLR3B NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) SNV Pathogenic
375248 rs775141057 GRCh37: 12:106889893-106889893
GRCh38: 12:106496115-106496115
3 POLR3B NM_018082.6(POLR3B):c.1763del (p.Asp588fs) DEL Pathogenic
1328976 GRCh37: 12:106827632-106827632
GRCh38: 12:106433854-106433854
4 POLR3B NM_018082.6(POLR3B):c.1857-2A>C SNV Pathogenic
31160 rs267608686 GRCh37: 12:106831457-106831457
GRCh38: 12:106437679-106437679
5 POLR3B NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) SNV Pathogenic
31161 rs267608687 GRCh37: 12:106850925-106850925
GRCh38: 12:106457147-106457147
6 POLR3B NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) SNV Pathogenic
31162 rs267608688 GRCh37: 12:106827517-106827517
GRCh38: 12:106433739-106433739
7 POLR3B NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu) SNV Pathogenic
31163 rs267608689 GRCh37: 12:106889897-106889897
GRCh38: 12:106496119-106496119
8 POLR3B NM_018082.6(POLR3B):c.1533del (p.Ile511fs) DEL Pathogenic
31165 rs267608684 GRCh37: 12:106826163-106826163
GRCh38: 12:106432385-106432385
9 POLR3B NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys) SNV Pathogenic
31164 rs267608683 GRCh37: 12:106826139-106826139
GRCh38: 12:106432361-106432361
10 POLR3B NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter) SNV Pathogenic
31167 rs267608685 GRCh37: 12:106857371-106857371
GRCh38: 12:106463593-106463593
11 POLR3B NM_018082.6(POLR3B):c.2084-6A>G SNV Pathogenic
419962 rs747912710 GRCh37: 12:106848274-106848274
GRCh38: 12:106454496-106454496
12 POLR3B NM_018082.6(POLR3B):c.2570+1G>A SNV Pathogenic
620581 rs753943393 GRCh37: 12:106853147-106853147
GRCh38: 12:106459369-106459369
13 POLR3B NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter) SNV Pathogenic
1184513 GRCh37: 12:106804622-106804622
GRCh38: 12:106410844-106410844
14 POLR3B NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) SNV Pathogenic
Pathogenic/Likely Pathogenic
Likely Pathogenic
31166 rs138249161 GRCh37: 12:106826199-106826199
GRCh38: 12:106432421-106432421
15 POLR3B NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe) SNV Pathogenic
1184080 GRCh37: 12:106763369-106763369
GRCh38: 12:106369591-106369591
16 POLR3B NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) SNV Likely Pathogenic
973230 rs371453512 GRCh37: 12:106850924-106850924
GRCh38: 12:106457146-106457146
17 POLR3B NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr) SNV Likely Pathogenic
870531 rs2037839447 GRCh37: 12:106848295-106848295
GRCh38: 12:106454517-106454517
18 POLR3B NM_018082.6(POLR3B):c.1263+2T>C SNV Likely Pathogenic
Not Provided
488794 rs774526181 GRCh37: 12:106821138-106821138
GRCh38: 12:106427360-106427360
19 POLR3B NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) SNV Likely Pathogenic
Uncertain Significance
285205 rs199504211 GRCh37: 12:106821117-106821117
GRCh38: 12:106427339-106427339
20 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) SNV Likely Pathogenic
211934 rs751459271 GRCh37: 12:106897933-106897933
GRCh38: 12:106504155-106504155
21 POLR3B NM_018082.6(POLR3B):c.1612_1614del (p.Leu538del) DEL Likely Pathogenic
211933 rs797045895 GRCh37: 12:106826241-106826243
GRCh38: 12:106432463-106432465
22 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.*587G>C SNV Uncertain Significance
306962 rs576237770 GRCh37: 12:106903914-106903914
GRCh38: 12:106510136-106510136
23 POLR3B NM_018082.6(POLR3B):c.2334G>A (p.Thr778=) SNV Uncertain Significance
306943 rs150800622 GRCh37: 12:106850956-106850956
GRCh38: 12:106457178-106457178
24 POLR3B NM_018082.6(POLR3B):c.1873T>C (p.Leu625=) SNV Uncertain Significance
306938 rs139376910 GRCh37: 12:106831475-106831475
GRCh38: 12:106437697-106437697
25 POLR3B NM_018082.6(POLR3B):c.1263+1G>A SNV Uncertain Significance
632180 rs1565893138 GRCh37: 12:106821137-106821137
GRCh38: 12:106427359-106427359
26 POLR3B NM_018082.6(POLR3B):c.665G>A (p.Arg222Gln) SNV Uncertain Significance
931565 rs2036738887 GRCh37: 12:106773859-106773859
GRCh38: 12:106380081-106380081
27 POLR3B NM_018082.6(POLR3B):c.1670A>G (p.Asn557Ser) SNV Uncertain Significance
1032789 rs2037539502 GRCh37: 12:106827539-106827539
GRCh38: 12:106433761-106433761
28 POLR3B NM_018082.6(POLR3B):c.2407A>G (p.Ile803Val) SNV Uncertain Significance
1032790 rs372387469 GRCh37: 12:106851029-106851029
GRCh38: 12:106457251-106457251
29 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.3105C>T (p.Pro1035=) SNV Uncertain Significance
306950 rs778281040 GRCh37: 12:106897865-106897865
GRCh38: 12:106504087-106504087
30 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.3390G>C (p.Lys1130Asn) SNV Uncertain Significance
306953 rs201527706 GRCh37: 12:106903315-106903315
GRCh38: 12:106509537-106509537
31 POLR3B NM_018082.6(POLR3B):c.685A>T (p.Thr229Ser) SNV Uncertain Significance
306929 rs886048897 GRCh37: 12:106773879-106773879
GRCh38: 12:106380101-106380101
32 POLR3B NM_018082.6(POLR3B):c.1038A>G (p.Gln346=) SNV Uncertain Significance
306932 rs886048898 GRCh37: 12:106804675-106804675
GRCh38: 12:106410897-106410897
33 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.*584A>G SNV Uncertain Significance
306961 rs886048903 GRCh37: 12:106903911-106903911
GRCh38: 12:106510133-106510133
34 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.*492A>T SNV Uncertain Significance
306958 rs780838654 GRCh37: 12:106903819-106903819
GRCh38: 12:106510041-106510041
35 POLR3B NM_018082.6(POLR3B):c.-39G>T SNV Uncertain Significance
306924 rs140312606 GRCh37: 12:106751619-106751619
GRCh38: 12:106357841-106357841
36 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.2905G>A (p.Val969Met) SNV Uncertain Significance
306948 rs200477676 GRCh37: 12:106890617-106890617
GRCh38: 12:106496839-106496839
37 POLR3B NM_018082.6(POLR3B):c.2670T>A (p.Arg890=) SNV Uncertain Significance
306945 rs886048900 GRCh37: 12:106857355-106857355
GRCh38: 12:106463577-106463577
38 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.3273-7G>A SNV Uncertain Significance
306951 rs373580359 GRCh37: 12:106903191-106903191
GRCh38: 12:106509413-106509413
39 POLR3B NM_018082.6(POLR3B):c.1956-8C>T SNV Uncertain Significance
306939 rs770497469 GRCh37: 12:106838233-106838233
GRCh38: 12:106444455-106444455
40 POLR3B NM_018082.6(POLR3B):c.1702A>G (p.Ile568Val) SNV Uncertain Significance
306936 rs35983209 GRCh37: 12:106827571-106827571
GRCh38: 12:106433793-106433793
41 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.*372A>G SNV Uncertain Significance
306956 rs557970332 GRCh37: 12:106903699-106903699
GRCh38: 12:106509921-106509921
42 POLR3B NM_018082.6(POLR3B):c.-37G>T SNV Uncertain Significance
306925 rs373418815 GRCh37: 12:106751621-106751621
GRCh38: 12:106357843-106357843
43 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.3334C>G (p.Leu1112Val) SNV Uncertain Significance
306952 rs886048902 GRCh37: 12:106903259-106903259
GRCh38: 12:106509481-106509481
44 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.2843C>T (p.Ala948Val) SNV Uncertain Significance
306946 rs779604405 GRCh37: 12:106890555-106890555
GRCh38: 12:106496777-106496777
45 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.3087C>T (p.Ala1029=) SNV Uncertain Significance
306949 rs886048901 GRCh37: 12:106895203-106895203
GRCh38: 12:106501425-106501425
46 POLR3B NM_018082.6(POLR3B):c.423T>C (p.Arg141=) SNV Uncertain Significance
306928 rs886048896 GRCh37: 12:106770155-106770155
GRCh38: 12:106376377-106376377
47 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.*442G>A SNV Uncertain Significance
306957 rs574873455 GRCh37: 12:106903769-106903769
GRCh38: 12:106509991-106509991
48 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.*238T>C SNV Uncertain Significance
306954 rs149535796 GRCh37: 12:106903565-106903565
GRCh38: 12:106509787-106509787
49 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.3098+8A>G SNV Uncertain Significance
880814 rs753390602 GRCh37: 12:106895222-106895222
GRCh38: 12:106501444-106501444
50 POLR3B NM_018082.6(POLR3B):c.745C>G (p.Gln249Glu) SNV Uncertain Significance
1028087 rs2036932047 GRCh37: 12:106786830-106786830
GRCh38: 12:106393052-106393052

UniProtKB/Swiss-Prot genetic disease variations for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism:

73
# Symbol AA change Variation ID SNP ID
1 POLR3B p.Thr503Lys VAR_067005 rs267608683
2 POLR3B p.Val523Glu VAR_067006 rs138249161
3 POLR3B p.Arg768His VAR_067008 rs267608687
4 POLR3B p.Asp926Glu VAR_067009 rs267608689
5 POLR3B p.Leu104Phe VAR_072344
6 POLR3B p.Ser268Gly VAR_072345
7 POLR3B p.Arg442Cys VAR_072346 rs1442212683
8 POLR3B p.Cys527Arg VAR_072347

Expression for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

Search GEO for disease gene expression data for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism.

Pathways for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

Pathways related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.67 STAT4 B2M

GO Terms for Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia...

Sources for Leukodystrophy, Hypomyelinating, 8, 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
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