MCID: NRP006
MIFTS: 15

Neuropathy, Congenital, with Arthrogryposis Multiplex

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Congenital, with Arthrogryposis Multiplex

MalaCards integrated aliases for Neuropathy, Congenital, with Arthrogryposis Multiplex:

Name: Neuropathy, Congenital, with Arthrogryposis Multiplex 56 52
Congenital Non-Progressive Peripheral Neuropathy with Arthrogryposis Multiplex 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
one family has been reported (as of april 2012)
nonprogressive disorder


HPO:

31
neuropathy, congenital, with arthrogryposis multiplex:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset nonprogressive


Classifications:



Summaries for Neuropathy, Congenital, with Arthrogryposis Multiplex

MalaCards based summary : Neuropathy, Congenital, with Arthrogryposis Multiplex, also known as congenital non-progressive peripheral neuropathy with arthrogryposis multiplex, is related to ataxia and polyneuropathy, adult-onset and alkuraya-kucinskas syndrome. Related phenotypes are spasticity and hyperlordosis

More information from OMIM: 162370

Related Diseases for Neuropathy, Congenital, with Arthrogryposis Multiplex

Diseases related to Neuropathy, Congenital, with Arthrogryposis Multiplex via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.3
2 alkuraya-kucinskas syndrome 10.3
3 distal arthrogryposis 10.3
4 myopathy 10.3
5 peripheral nervous system disease 10.3
6 muscular atrophy 10.3
7 neuropathy 10.3
8 congenital amyoplasia 10.3

Graphical network of the top 20 diseases related to Neuropathy, Congenital, with Arthrogryposis Multiplex:



Diseases related to Neuropathy, Congenital, with Arthrogryposis Multiplex

Symptoms & Phenotypes for Neuropathy, Congenital, with Arthrogryposis Multiplex

Human phenotypes related to Neuropathy, Congenital, with Arthrogryposis Multiplex:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperlordosis 31 HP:0003307
3 arthrogryposis multiplex congenita 31 HP:0002804
4 broad-based gait 31 HP:0002136
5 babinski sign 31 HP:0003487
6 distal amyotrophy 31 HP:0003693
7 distal muscle weakness 31 HP:0002460
8 proximal muscle weakness 31 HP:0003701
9 areflexia of lower limbs 31 HP:0002522
10 hyporeflexia of lower limbs 31 HP:0002600
11 calcaneovalgus deformity 31 HP:0001848
12 delayed ability to walk 31 HP:0031936
13 congenital peripheral neuropathy 31 HP:0006903

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
distal muscle weakness
distal muscle atrophy
proximal muscle weakness, less severe
muscle biopsy shows myopathic changes
denervation
more
Skeletal Spine:
lordosis

Neurologic Peripheral Nervous System:
hyporeflexia, lower limbs
areflexia, lower limbs
no sensory defects

Skeletal Limbs:
limited joint flexion

Neurologic Central Nervous System:
wide-based gait
extensor plantar responses
delayed walking
spasticity (1 of 4 patients)

Skeletal:
joint contractures
arthrogryposis

Skeletal Pelvis:
dislocation of the hips
limited hip flexion

Skeletal Feet:
equinus
calcaneovalgus
equinovalgus

Clinical features from OMIM:

162370

Drugs & Therapeutics for Neuropathy, Congenital, with Arthrogryposis Multiplex

Search Clinical Trials , NIH Clinical Center for Neuropathy, Congenital, with Arthrogryposis Multiplex

Genetic Tests for Neuropathy, Congenital, with Arthrogryposis Multiplex

Anatomical Context for Neuropathy, Congenital, with Arthrogryposis Multiplex

Publications for Neuropathy, Congenital, with Arthrogryposis Multiplex

Articles related to Neuropathy, Congenital, with Arthrogryposis Multiplex:

# Title Authors PMID Year
1
Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex. 56 61
4364274 1974

Variations for Neuropathy, Congenital, with Arthrogryposis Multiplex

Expression for Neuropathy, Congenital, with Arthrogryposis Multiplex

Search GEO for disease gene expression data for Neuropathy, Congenital, with Arthrogryposis Multiplex.

Pathways for Neuropathy, Congenital, with Arthrogryposis Multiplex

GO Terms for Neuropathy, Congenital, with Arthrogryposis Multiplex

Sources for Neuropathy, Congenital, with Arthrogryposis Multiplex

3 CDC
7 CNVD
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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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