Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁸

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

Sources

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.

Sources

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

Sources

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	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

Sources

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

Sources

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

Sources

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

Sources

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	Ghoumid J...Manouvrier-Hanu S	28589944	2017
2	4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype. ⁵⁷ ⁵	Verberne EA...van Haelst MM	32319736	2020
3	Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. ⁵⁷ ⁵	Wolf NI...4H Research Group	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	Daoud H...Bernard G	23355746	2013
5	Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. ⁵⁷ ⁵	Tetreault M...Bernard G	22036172	2011
6	Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. ⁵⁷ ⁵	Saitsu H...Matsumoto N	22036171	2011
7	Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. ⁵⁷ ⁵	Sasaki M...Sato N	18851904	2009
8	Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. ⁶² ⁵⁷	Ozgen HM...Hennekam RC	15672385	2005
9	Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. ⁵⁷	Richards MR...Seminara SB	27512013	2017
10	Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome. ⁵⁷	Charrow J...Robinow M	1776639	1991
11	[Congenital cerebellar hypoplasia with bone lesions]. ⁵⁷	Stoll C...Levy JM	3729252	1986
12	Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen. ⁶²	Sawaguchi S...Yamauchi J	35225888	2022

Sources

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

Genes related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POLR3B	RNA Polymerase III Subunit B	Protein Coding	1683.8	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	18851904 22036171 22036172 (more) 23355746 25339210 28589944 32319736 15672385
2	LOC100287944	Uncharacterized LOC100287944	RNA Gene	25	Likely pathogenic ⁵
3	AVPR2	Arginine Vasopressin Receptor 2	Protein Coding	4.68	DISEASES inferred ¹⁴
4	STAT4	Signal Transducer And Activator Of Transcription 4	Protein Coding	4.31	DISEASES inferred ¹⁴
5	GUSB	Glucuronidase Beta	Protein Coding	4.3	DISEASES inferred ¹⁴
6	DDX53	DEAD-Box Helicase 53	Protein Coding	4	DISEASES inferred ¹⁴
7	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	3.58	DISEASES inferred ¹⁴
8	B2M	Beta-2-Microglobulin	Protein Coding	3.51	DISEASES inferred ¹⁴

Sources

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

Sources

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.

Sources

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	IL12-mediated signaling events ⁶¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	10.67	STAT4 B2M

Sources

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

Sources

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

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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

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:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

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

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:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

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:

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:

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

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

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

Genes related to Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (1 elite genes):

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:

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

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

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:

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

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