MCID: HYP671
MIFTS: 10

Hypomyelination Neuropathy-Arthrogryposis Syndrome malady

Categories: Fetal diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Aliases & Descriptions for Hypomyelination Neuropathy-Arthrogryposis Syndrome:

Name: Hypomyelination Neuropathy-Arthrogryposis Syndrome 56
Boylan-Dew Syndrome 56

Classifications:



External Ids:

Orphanet 56 ORPHA2680

Summaries for Hypomyelination Neuropathy-Arthrogryposis Syndrome

MalaCards based summary : Hypomyelination Neuropathy-Arthrogryposis Syndrome, also known as boylan-dew syndrome, is related to bacterial myositis, and has symptoms including muscular hypotonia, reduced tendon reflexes and limitation of joint mobility. An important gene associated with Hypomyelination Neuropathy-Arthrogryposis Syndrome is ADCY6 (Adenylate Cyclase 6). Related phenotype is muscle.

Related Diseases for Hypomyelination Neuropathy-Arthrogryposis Syndrome

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

id Related Disease Score Top Affiliating Genes
1 bacterial myositis 9.8 ADCY6 CNTNAP1

Symptoms & Phenotypes for Hypomyelination Neuropathy-Arthrogryposis Syndrome

Human phenotypes related to Hypomyelination Neuropathy-Arthrogryposis Syndrome:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
2 reduced tendon reflexes 56 32 Very frequent (99-80%) HP:0001315
3 limitation of joint mobility 56 32 Very frequent (99-80%) HP:0001376
4 respiratory distress 56 32 Very frequent (99-80%) HP:0002098
5 emg abnormality 56 32 Very frequent (99-80%) HP:0003457

MGI Mouse Phenotypes related to Hypomyelination Neuropathy-Arthrogryposis Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 ADCY6 CNTNAP1

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

Sources for Hypomyelination Neuropathy-Arthrogryposis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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