Leukodystrophy, Hypomyelinating, 5; Hld5

Description

Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

Clinical Features

Top most frequent phenotypes and symptoms related to Leukodystrophy, Hypomyelinating, 5; Hld5

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Cataract
  • Muscle weakness
  • Peripheral neuropathy
  • Feeding difficulties
And another 26 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, 5; Hld5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypomyelination and Congenital Cataract.

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

FAM126A
Specificity
100 %
Genes
100 %
FAM126A. Complete sequencing.

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

FAM126A
Specificity
100 %
Genes
100 %
Hypomyelination and congenital cataract (sequence analysis of FAM126A gene).

By CGC Genetics in Portugal.

FAM126A
Specificity
100 %
Genes
100 %
Hypomyelination and Congenital Cataract (HCC) via the FAM126A Gene.

By PreventionGenetics PreventionGenetics in United States.

FAM126A
Specificity
100 %
Genes
100 %
Congenital Cataracts Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
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 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Hypomyelination and Congenital Cataract.

By MGZ Medical Genetics Center in Germany.

FAM126A
Specificity
100 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
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 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8 , (...)

View the complete list with 93 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 5.

By Centogene AG - the Rare Disease Company in Germany.

FAM126A
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 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 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 %
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 %
Invitae Congenital Cataracts Panel.

By Invitae in United States.

PAX6, PITX3, OCRL, FOXC1, PITX2, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, CTDP1, VSX2, FAM126A, GJA8, GCNT2, CRYBB1 , (...)

View the complete list with 12 more genes
Specificity
4 %
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 %
FAM126A - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

FAM126A
Specificity
100 %
Genes
100 %
Leukoencephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PTEN, PSAP, HSPD1, SCP2, ABAT, SLC25A12, DARS2, ALDH3A2, ACOX1, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
FAM126A.

By Fulgent Genetics Fulgent Genetics in United States.

FAM126A
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 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Leukodystrophy, hypomyelinating, 5.

By Bioarray in Spain.

FAM126A
Specificity
100 %
Genes
100 %
Congenital Cataract by Hypomyelination, Sequencing FAM126A Gene.

By Reference Laboratory Genetics in Spain.

FAM126A
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 %
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes.

By Reference Laboratory Genetics in Spain.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Hypomyelination and Congenital Cataract: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FAM126A
Specificity
100 %
Genes
100 %

Alternate names

Leukodystrophy, Hypomyelinating, 5; Hld5 Is also known as hypomyelination and congenital cataract: hcc;.



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