HNARMD
MCID: NRP048
MIFTS: 31

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 56 73
Macular Degeneration, Age-Related, 3 56 73 13 71
Age-Related Macular Degeneration 3 29 6
Hnarmd 56 73
Hereditary Sensorimotor Neuropathy with Hyperelastic Skin 58
Macular Degeneration, Age-Related, Type 3 39
Armd3 73

Characteristics:

Orphanet epidemiological data:

58
hereditary sensorimotor neuropathy with hyperelastic skin
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
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:

31
neuropathy, hereditary, with or without age-related macular degeneration:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 608895
OMIM Phenotypic Series 56 PS603075
ICD10 via Orphanet 33 G60.0
Orphanet 58 ORPHA280598
UMLS 71 C1837187

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

UniProtKB/Swiss-Prot : 73 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.

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). The drugs Bevacizumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and endothelial, and related phenotypes are distal sensory impairment and decreased nerve conduction velocity

OMIM : 56 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)

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 13.0
2 macular degeneration, age-related, 1 10.2
3 cataract 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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 distal sensory impairment 31 hallmark (90%) HP:0002936
2 decreased nerve conduction velocity 31 occasional (7.5%) HP:0000762
3 joint hypermobility 31 very rare (1%) HP:0001382
4 macular degeneration 31 very rare (1%) HP:0000608
5 hyperextensible skin 31 very rare (1%) HP:0000974
6 distal amyotrophy 31 very rare (1%) HP:0003693
7 peripheral axonal neuropathy 31 very rare (1%) HP:0003477
8 distal muscle weakness 31 very rare (1%) HP:0002460
9 decreased patellar reflex 31 very rare (1%) HP:0011808
10 pes cavus 31 HP:0001761
11 choroidal neovascularization 31 HP:0011506
12 drusen 31 HP:0011510

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
foot deformities (in some patients)

Skeletal:
joint hypermobility (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

Head And Neck Eyes:
age-related macular degeneration (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...

Drugs for Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 2, Phase 3 216974-75-3
2 Antineoplastic Agents, Immunological Phase 2, Phase 3
3 Angiogenesis Inhibitors Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Systemic Bevacizumab (Avastin) Therapy for Exudative Neovascular Age-Related Macular Degeneration Completed NCT00531024 Phase 2, Phase 3 Bevacizumab;Sodium Chloride
2 Intravitreal Bevacizumab for Treatment of the Second Eye With Non-Arteritic Ischemic Optic Neuropathy Unknown status NCT00813059 Phase 2 Intra-vitreal injection of bevacizumab (1.25mg/0.05ml)
3 Functional, Morphological And Safety Results After Intravitreal Bevacizumab Treatment Of Neovascular Age-related Macular Degeneration - 3 Years Of Follow-up Completed NCT01027468 Bevacizumab

Search 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 29 FBLN5

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:

40
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:

(show all 20)
# Title Authors PMID Year
1
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy. 56 6
23328402 2013
2
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. 56 6
21576112 2011
3
Missense variations in the fibulin 5 gene and age-related macular degeneration. 56 6
15269314 2004
4
Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration. 56
17109857 2007
5
Clinical and angiographic characterization of choroidal neovascularization in diabetic retinopathy. 61
31984769 2020
6
Cost-effectiveness of basic vision rehabilitation (The basic VRS-effect study): study protocol for a randomised controlled trial. 61
31989690 2020
7
Ability of MultiColor scanning laser ophthalmoscope to detect non-glaucomatous retinal nerve fiber layer defects in eyes with retinal diseases. 61
30558574 2018
8
Repeatability and Reproducibility of Superficial Macular Retinal Vessel Density Measurements Using Optical Coherence Tomography Angiography En Face Images. 61
28910435 2017
9
Visual Function in Older Eyes in Normal Macular Health: Association with Incident Early Age-Related Macular Degeneration 3 Years Later. 61
27074381 2016
10
Bilateral same-session intravitreal injections of anti-vascular endothelial growth factors. 61
25540758 2014
11
Risk of age-related macular degeneration 3 years after cataract surgery: paired eye comparisons. 61
22959104 2012
12
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. 61
22414958 2012
13
Three-year follow-up of a pilot study of ranibizumab combined with proton beam irradiation as treatment for exudative age-related macular degeneration. 61
22183743 2012
14
[Classification and diagnostic criteria of age-related macular degeneration]. 61
19157028 2008
15
Pegaptanib: new drug. In macular degeneration: too many risks for too little benefit. 61
16989023 2006
16
[Evaluating the results of surgery of choroidal neovessels]. 61
9238472 1997
17
Indocyanine green dye for choroidal angiography. 61
9120865 1996
18
Argon green vs. krypton red laser photocoagulation for extrafoveal choroidal neovascularization secondary to age-related macular degeneration: 3-year results of a multicentre randomized trial. Canadian Ophthalmology Study Group. 61
8925479 1996
19
Penetrating keratoplasty for pseudophakic bullous keratopathy associated with closed-loop anterior chamber intraocular lenses. 61
2326019 1990
20
Potential acuity meter for predicting visual acuity after Nd:YAG posterior capsulotomy. 61
3754630 1986

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

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

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBLN5 NM_006329.3(FBLN5):c.178G>C (p.Val60Leu)SNV Pathogenic 5477 rs121434299 14:92403492-92403492 14:91937148-91937148
2 FBLN5 NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln)SNV Pathogenic 5478 rs121434300 14:92403458-92403458 14:91937114-91937114
3 FBLN5 NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser)SNV Pathogenic 5479 rs121434301 14:92403411-92403411 14:91937067-91937067
4 FBLN5 NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr)SNV Pathogenic 5480 rs28939072 14:92357678-92357678 14:91891334-91891334
5 FBLN5 NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr)SNV Pathogenic 5482 rs121434302 14:92343929-92343929 14:91877585-91877585
6 FBLN5 NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu)SNV Pathogenic 5483 rs121434303 14:92336680-92336680 14:91870336-91870336
7 FBLN5 NM_006329.3(FBLN5):c.1201_1202del (p.Ser401fs)deletion Pathogenic 689758 14:92336713-92336714 14:91870369-91870370
8 FBLN5 NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys)SNV Likely pathogenic 218358 rs864309526 14:92343899-92343899 14:91877555-91877555
9 FBLN5 NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser)SNV Conflicting interpretations of pathogenicity 218359 rs144288844 14:92403402-92403402 14:91937058-91937058
10 FBLN5 NM_006329.3(FBLN5):c.376G>A (p.Val126Met)SNV Conflicting interpretations of pathogenicity 218360 rs61734479 14:92403294-92403294 14:91936950-91936950
11 FBLN5 NM_006329.3(FBLN5):c.1183C>T (p.Arg395Trp)SNV Uncertain significance 417872 rs372650987 14:92343833-92343833 14:91877489-91877489
12 FBLN5 NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp)SNV Uncertain significance 5481 rs28939073 14:92343965-92343965 14:91877621-91877621

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

73 (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

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...

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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