MCID: NRP006
MIFTS: 15

Neuropathy, Congenital, with Arthrogryposis Multiplex

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Neuropathy, Congenital, with Arthrogryposis Multiplex

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

Name: Neuropathy, Congenital, with Arthrogryposis Multiplex 57 19
Congenital Non-Progressive Peripheral Neuropathy with Arthrogryposis Multiplex 19

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset at birth
one family has been reported (as of april 2012)
nonprogressive disorder


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 arthrogryposis, distal, type 1a and charcot-marie-tooth disease, demyelinating, type 1b. 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 arthrogryposis, distal, type 1a 10.3
2 charcot-marie-tooth disease, demyelinating, type 1b 10.3
3 friedreich ataxia 10.3
4 distal arthrogryposis 10.3
5 charcot-marie-tooth disease 10.3
6 myopathy 10.3
7 peripheral nervous system disease 10.3
8 muscular atrophy 10.3
9 neuropathy 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:

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 30 HP:0001257
2 hyperlordosis 30 HP:0003307
3 arthrogryposis multiplex congenita 30 HP:0002804
4 broad-based gait 30 HP:0002136
5 babinski sign 30 HP:0003487
6 distal muscle weakness 30 HP:0002460
7 proximal muscle weakness 30 HP:0003701
8 distal amyotrophy 30 HP:0003693
9 areflexia of lower limbs 30 HP:0002522
10 hyporeflexia of lower limbs 30 HP:0002600
11 calcaneovalgus deformity 30 HP:0001848
12 delayed ability to walk 30 HP:0031936
13 congenital peripheral neuropathy 30 HP:0006903

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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. 62 57
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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