Neuropathy, Hereditary, With Or Without Age-related Macular Degeneration; Hnarmd

Description

Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, {118220}) and/or axonal CMT (see, e.g., CMT2A1, {118210}) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; {182960}) with intact sensation. Age-related macular degeneration, if present, shows very late onset in the seventies or eighties. In addition, some patients may show hyperelasticity of the skin or joints. The age at onset of neuropathy and severity of the disorder is highly variable, even within families (summary by Auer-Grumbach et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see {603075}.

Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Hereditary, With Or Without Age-related Macular Degeneration; Hnarmd

  • Muscle weakness
  • High palate
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system
  • Areflexia
  • Hyporeflexia
  • Pes cavus
  • Distal muscle weakness
  • Peripheral axonal neuropathy

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including late onset .

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Neuropathy, Hereditary, With Or Without Age-related Macular Degeneration; Hnarmd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1
Specificity
6 %
Genes
100 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Macular Degeneration Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
FBLN5.

By Institute for Human Genetics University Clinic Freiburg (Germany).

FBLN5
Specificity
100 %
Genes
100 %
Cystic Lung Disease Panel (8 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

TSC1, TSC2, FLCN, EFEMP2, ELN, FBLN5, LTBP4, SERPINA1
Specificity
13 %
Genes
100 %
PulmoGene Panel (64 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

RPGR, BDNF, SCNN1A, SCNN1B, SCNN1G, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, STAT3, TERC, TERT, NKX2-1, TSC1, TSC2, RSPH1, HPS3, HPS4 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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