HNARMD
MCID: NRP048
MIFTS: 26

Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration (HNARMD)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neuropathy, Hereditary, with or Without Age-Related Macular...

MalaCards integrated aliases for Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration:

Name: Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration 58 76
Macular Degeneration, Age-Related, 3 58 76 13 74
Age-Related Macular Degeneration 3 30 6
Hnarmd 58 76
Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 60
Macular Degeneration, Age-Related, Type 3 41
Armd3 76

Characteristics:

Orphanet epidemiological data:

60
hereditary sensorimotor neuropathy with hyperelastic skin
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset of neuropathy (range first to sixth decade)
highly variable severity and features
macular degeneration only occurs in some patients at very late age (over 70)


HPO:

33
neuropathy, hereditary, with or without age-related macular degeneration:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 608895
ICD10 via Orphanet 35 G60.0
Orphanet 60 ORPHA280598
UMLS 74 C1837187

Summaries for Neuropathy, Hereditary, with or Without Age-Related Macular...

OMIM : 58 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. (608895)

MalaCards based summary : Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration, also known as macular degeneration, age-related, 3, is related to hereditary sensorimotor neuropathy with hyperelastic skin and macular degeneration, age-related, 1. An important gene associated with Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration is FBLN5 (Fibulin 5). Affiliated tissues include skin, eye and endothelial, and related phenotypes are distal sensory impairment and decreased nerve conduction velocity

UniProtKB/Swiss-Prot : 76 Macular degeneration, age-related, 3: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Neuropathy, hereditary, with or without age-related macular degeneration: An autosomal dominant neuropathy of the Charcot-Marie-Tooth disease group, characterized by distal muscle weakness and atrophy variably affecting the lower and upper limbs. Distal sensory impairment and decreased nerve conduction velocities are present in most but not all patients. Additional variable features are age-related macular degeneration, joint hypermobility, and hyperelastic skin.

Related Diseases for Neuropathy, Hereditary, with or Without Age-Related Macular...

Diseases related to Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary sensorimotor neuropathy with hyperelastic skin 12.6
2 macular degeneration, age-related, 1 10.1

Symptoms & Phenotypes for Neuropathy, Hereditary, with or Without Age-Related Macular...

Human phenotypes related to Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 distal sensory impairment 33 hallmark (90%) HP:0002936
2 decreased nerve conduction velocity 33 occasional (7.5%) HP:0000762
3 joint hypermobility 33 very rare (1%) HP:0001382
4 macular degeneration 33 very rare (1%) HP:0000608
5 hyperextensible skin 33 very rare (1%) HP:0000974
6 peripheral axonal neuropathy 33 very rare (1%) HP:0003477
7 distal muscle weakness 33 very rare (1%) HP:0002460
8 distal amyotrophy 33 very rare (1%) HP:0003693
9 decreased patellar reflex 33 very rare (1%) HP:0011808
10 pes cavus 33 HP:0001761
11 choroidal neovascularization 33 HP:0011506
12 drusen 33 HP:0011510

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
age-related macular degeneration (in some patients)

Skeletal Feet:
foot deformities (in some patients)

Muscle Soft Tissue:
distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs
distal muscle atrophy due to peripheral neuropathy, lower limbs more affected than upper limbs

Skeletal:
joint hypermobility (in some patients)

Skin Nails Hair Skin:
hyperelastic skin (in some patients)

Neurologic Peripheral Nervous System:
peripheral neuropathy, demyelinating
distal sensory impairment (in most patients)
decreased nerve conduction velocities (in most patients)
axonal peripheral neuropathy (in some patients)

Clinical features from OMIM:

608895

Drugs & Therapeutics for Neuropathy, Hereditary, with or Without Age-Related Macular...

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration

Genetic Tests for Neuropathy, Hereditary, with or Without Age-Related Macular...

Genetic tests related to Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 3 30

Anatomical Context for Neuropathy, Hereditary, with or Without Age-Related Macular...

MalaCards organs/tissues related to Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration:

42
Skin, Eye, Endothelial

Publications for Neuropathy, Hereditary, with or Without Age-Related Macular...

Articles related to Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration:

# Title Authors Year
1
Visual Function in Older Eyes in Normal Macular Health: Association with Incident Early Age-Related Macular Degeneration 3 Years Later. ( 27074381 )
2016
2
Retreatment with anti-vascular endothelial growth factor therapy based on changes in visual acuity after initial stabilization of neovascular age-related macular degeneration: 3-year follow-up results. ( 22414958 )
2012

Variations for Neuropathy, Hereditary, with or Without Age-Related Macular...

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration:

76 (show all 12)
# Symbol AA change Variation ID SNP ID
1 FBLN5 p.Val60Leu VAR_019814 rs121434299
2 FBLN5 p.Arg71Gln VAR_019815 rs121434300
3 FBLN5 p.Pro87Ser VAR_019816 rs121434301
4 FBLN5 p.Ile169Thr VAR_019817 rs28939072
5 FBLN5 p.Arg351Trp VAR_019818 rs28939073
6 FBLN5 p.Ala363Thr VAR_019819 rs121434302
7 FBLN5 p.Gly412Glu VAR_019820 rs121434303
8 FBLN5 p.Gln124Pro VAR_072389
9 FBLN5 p.Gly267Ser VAR_072393 rs149396611
10 FBLN5 p.Thr48Ile VAR_076289 rs141200859
11 FBLN5 p.Gly90Ser VAR_076290 rs144288844
12 FBLN5 p.Arg373Cys VAR_076291 rs864309526

ClinVar genetic disease variations for Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBLN5 NM_006329.3(FBLN5): c.1117C> T (p.Arg373Cys) single nucleotide variant Likely pathogenic rs864309526 GRCh37 Chromosome 14, 92343899: 92343899
2 FBLN5 NM_006329.3(FBLN5): c.1117C> T (p.Arg373Cys) single nucleotide variant Likely pathogenic rs864309526 GRCh38 Chromosome 14, 91877555: 91877555
3 FBLN5 NM_006329.3(FBLN5): c.268G> A (p.Gly90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144288844 GRCh38 Chromosome 14, 91937058: 91937058
4 FBLN5 NM_006329.3(FBLN5): c.268G> A (p.Gly90Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs144288844 GRCh37 Chromosome 14, 92403402: 92403402
5 FBLN5 NM_006329.3(FBLN5): c.376G> A (p.Val126Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61734479 GRCh38 Chromosome 14, 91936950: 91936950
6 FBLN5 NM_006329.3(FBLN5): c.376G> A (p.Val126Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61734479 GRCh37 Chromosome 14, 92403294: 92403294
7 FBLN5 NM_006329.3(FBLN5): c.178G> C (p.Val60Leu) single nucleotide variant Pathogenic rs121434299 GRCh37 Chromosome 14, 92403492: 92403492
8 FBLN5 NM_006329.3(FBLN5): c.178G> C (p.Val60Leu) single nucleotide variant Pathogenic rs121434299 GRCh38 Chromosome 14, 91937148: 91937148
9 FBLN5 NM_006329.3(FBLN5): c.212G> A (p.Arg71Gln) single nucleotide variant Pathogenic rs121434300 GRCh37 Chromosome 14, 92403458: 92403458
10 FBLN5 NM_006329.3(FBLN5): c.212G> A (p.Arg71Gln) single nucleotide variant Pathogenic rs121434300 GRCh38 Chromosome 14, 91937114: 91937114
11 FBLN5 NM_006329.3(FBLN5): c.259C> T (p.Pro87Ser) single nucleotide variant Pathogenic rs121434301 GRCh37 Chromosome 14, 92403411: 92403411
12 FBLN5 NM_006329.3(FBLN5): c.259C> T (p.Pro87Ser) single nucleotide variant Pathogenic rs121434301 GRCh38 Chromosome 14, 91937067: 91937067
13 FBLN5 NM_006329.3(FBLN5): c.506T> C (p.Ile169Thr) single nucleotide variant Pathogenic rs28939072 GRCh37 Chromosome 14, 92357678: 92357678
14 FBLN5 NM_006329.3(FBLN5): c.506T> C (p.Ile169Thr) single nucleotide variant Pathogenic rs28939072 GRCh38 Chromosome 14, 91891334: 91891334
15 FBLN5 NM_006329.3(FBLN5): c.1051C> T (p.Arg351Trp) single nucleotide variant Pathogenic rs28939073 GRCh37 Chromosome 14, 92343965: 92343965
16 FBLN5 NM_006329.3(FBLN5): c.1051C> T (p.Arg351Trp) single nucleotide variant Pathogenic rs28939073 GRCh38 Chromosome 14, 91877621: 91877621
17 FBLN5 NM_006329.3(FBLN5): c.1087G> A (p.Ala363Thr) single nucleotide variant Pathogenic rs121434302 GRCh37 Chromosome 14, 92343929: 92343929
18 FBLN5 NM_006329.3(FBLN5): c.1087G> A (p.Ala363Thr) single nucleotide variant Pathogenic rs121434302 GRCh38 Chromosome 14, 91877585: 91877585
19 FBLN5 NM_006329.3(FBLN5): c.1235G> A (p.Gly412Glu) single nucleotide variant Pathogenic rs121434303 GRCh37 Chromosome 14, 92336680: 92336680
20 FBLN5 NM_006329.3(FBLN5): c.1235G> A (p.Gly412Glu) single nucleotide variant Pathogenic rs121434303 GRCh38 Chromosome 14, 91870336: 91870336
21 FBLN5 NM_006329.3(FBLN5): c.1183C> T (p.Arg395Trp) single nucleotide variant Uncertain significance rs372650987 GRCh38 Chromosome 14, 91877489: 91877489
22 FBLN5 NM_006329.3(FBLN5): c.1183C> T (p.Arg395Trp) single nucleotide variant Uncertain significance rs372650987 GRCh37 Chromosome 14, 92343833: 92343833

Expression for Neuropathy, Hereditary, with or Without Age-Related Macular...

Search GEO for disease gene expression data for Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration.

Pathways for Neuropathy, Hereditary, with or Without Age-Related Macular...

GO Terms for Neuropathy, Hereditary, with or Without Age-Related Macular...

Sources for Neuropathy, Hereditary, with or Without Age-Related Macular...

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75 UMLS via Orphanet
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