MCID: HYP671
MIFTS: 11

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 59

Classifications:



External Ids:

Orphanet 59 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 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:

# Related Disease Score Top Affiliating Genes
1 arthrogryposis multiplex congenita, neurogenic, with myelin defect 8.9 LGI4 CNTNAP1 ADCY6

Symptoms & Phenotypes for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Human phenotypes related to Hypomyelination Neuropathy-Arthrogryposis Syndrome:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
3 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002098
4 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
5 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315

MGI Mouse Phenotypes related to Hypomyelination Neuropathy-Arthrogryposis Syndrome:

46
# 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 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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