Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/or Hypogonadotropic Hypogonadism; Hld7

Description

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 (OMIM ), which has similar features and is caused by mutation in the POLR3B gene (OMIM ) 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}.

Clinical Features

Top most frequent phenotypes and symptoms related to Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/or Hypogonadotropic Hypogonadism; Hld7

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Motor delay
  • Cognitive impairment
And another 46 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/or Hypogonadotropic Hypogonadism; Hld7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
POLIII- Related Leukodystrophies.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

POLR3A, POLR3B
Specificity
50 %
Genes
100 %
POLR3A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

POLR3A
Specificity
100 %
Genes
100 %
Leukodystrophy hypomyelinating type 7 (sequence analysis of POLR3A gene).

By CGC Genetics in Portugal.

POLR3A
Specificity
100 %
Genes
100 %
Leukodystrophy hypomyelinating (NGS panel for 3 genes).

By CGC Genetics in Portugal.

TUBB4A, POLR3A, POLR3B
Specificity
34 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Hypomyelination.

By MGZ Medical Genetics Center in Germany.

PLP1, EIF2B3, FOLR1, SPTAN1, TUBB4A, POLR3A, POLR3B, FAM126A
Specificity
13 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy hypomyelinating, type 7.

By Centogene AG - the Rare Disease Company in Germany.

POLR3A
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy / Leukencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Single gene testing POLR3A.

By CeGaT GmbH in Germany.

POLR3A
Specificity
100 %
Genes
100 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

AARS2, TYROBP, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, ALDH3A2, ACOX1, GALC, L2HGDH, GBE1, GCDH, CYP27A1, ARSA, ASPA, EIF2B1, GJC2, PLP1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

PSAP, HSPD1, SCP2, DARS2, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Leukodistrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
POLR3A - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

POLR3A
Specificity
100 %
Genes
100 %
POLR3A.

By Fulgent Genetics Fulgent Genetics in United States.

POLR3A
Specificity
100 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Leukoencephalopathy - ataxia - hypodontia - hypomyelination.

By Bioarray in Spain.

POLR3A
Specificity
100 %
Genes
100 %
Leukodystrophy hypomyelinating type 7.

By LifeLabs Genetics in Canada.

POLR3A
Specificity
100 %
Genes
100 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2, PEX7 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Leukodystrophy: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

POLR1C, POLR3A, POLR3B
Specificity
34 %
Genes
100 %

Alternate names

Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/or Hypogonadotropic Hypogonadism; Hld7 Is also known as leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition, ataxia, delayed dentition, and hypomyelination;addh, leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism, 4h syndrome;ataxia-delayed dentition-hypomyelination syndrome.



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