MCID: HYP671
MIFTS: 15

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 60

Classifications:



External Ids:

Orphanet 60 ORPHA2680

Summaries for Hypomyelination Neuropathy-Arthrogryposis Syndrome

MalaCards based summary : Hypomyelination Neuropathy-Arthrogryposis Syndrome is related to arthrogryposis multiplex congenita, neurogenic, with myelin defect. An important gene associated with Hypomyelination Neuropathy-Arthrogryposis Syndrome is LGI4 (Leucine Rich Repeat LGI Family Member 4). 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:

# Related Disease Score Top Affiliating Genes
1 arthrogryposis multiplex congenita, neurogenic, with myelin defect 9.3 ADCY6 CNTNAP1 LGI4

Symptoms & Phenotypes for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Human phenotypes related to Hypomyelination Neuropathy-Arthrogryposis Syndrome:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
3 respiratory distress 60 33 hallmark (90%) Very frequent (99-80%) HP:0002098
4 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376
5 reduced tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001315

MGI Mouse Phenotypes related to Hypomyelination Neuropathy-Arthrogryposis Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.13 ADCY6 CNTNAP1 LGI4
2 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:

# Name GO ID Score Top Affiliating Genes
1 myelination in peripheral nervous system GO:0022011 8.62 CNTNAP1 LGI4

Sources for Hypomyelination Neuropathy-Arthrogryposis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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