MCID: HYP671
MIFTS: 13

Hypomyelination Neuropathy-Arthrogryposis Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypomyelination Neuropathy-Arthrogryposis Syndrome

MalaCards integrated aliases for Hypomyelination Neuropathy-Arthrogryposis Syndrome:

Name: Hypomyelination Neuropathy-Arthrogryposis Syndrome 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA2680

Summaries for Hypomyelination Neuropathy-Arthrogryposis Syndrome

MalaCards based summary : Hypomyelination Neuropathy-Arthrogryposis Syndrome is related to lethal congenital contracture syndrome and hypertrophic neuropathy of dejerine-sottas. An important gene associated with Hypomyelination Neuropathy-Arthrogryposis Syndrome is ADCY6 (Adenylate Cyclase 6). Related phenotypes are muscular hypotonia and emg abnormality

Related Diseases for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Diseases related to Hypomyelination Neuropathy-Arthrogryposis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 9.3 CNTNAP1 ADCY6
2 hypertrophic neuropathy of dejerine-sottas 9.2 LGI4 CNTNAP1
3 distal arthrogryposis 9.0 LGI4 CNTNAP1 ADCY6

Symptoms & Phenotypes for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Human phenotypes related to Hypomyelination Neuropathy-Arthrogryposis Syndrome:

58 31 (showing 5, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
3 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
4 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
5 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315

MGI Mouse Phenotypes related to Hypomyelination Neuropathy-Arthrogryposis Syndrome:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 ADCY6 CNTNAP1 LGI4

Drugs & Therapeutics for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Search Clinical Trials , NIH Clinical Center for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Genetic Tests for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Anatomical Context for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Publications for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Variations for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Expression for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Search GEO for disease gene expression data for Hypomyelination Neuropathy-Arthrogryposis Syndrome.

Pathways for Hypomyelination Neuropathy-Arthrogryposis Syndrome

GO Terms for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Biological processes related to Hypomyelination Neuropathy-Arthrogryposis Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 myelination in peripheral nervous system GO:0022011 8.62 LGI4 CNTNAP1

Sources for Hypomyelination Neuropathy-Arthrogryposis Syndrome

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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