MCID: KLH005
MIFTS: 13

Klhl9-Related Early-Onset Distal Myopathy

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Klhl9-Related Early-Onset Distal Myopathy

MalaCards integrated aliases for Klhl9-Related Early-Onset Distal Myopathy:

Name: Klhl9-Related Early-Onset Distal Myopathy 60

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G71.0
Orphanet 60 ORPHA399081

Summaries for Klhl9-Related Early-Onset Distal Myopathy

MalaCards based summary : Klhl9-Related Early-Onset Distal Myopathy An important gene associated with Klhl9-Related Early-Onset Distal Myopathy is KLHL9 (Kelch Like Family Member 9). Related phenotypes are emg: myopathic abnormalities and ankle contracture

Related Diseases for Klhl9-Related Early-Onset Distal Myopathy

Symptoms & Phenotypes for Klhl9-Related Early-Onset Distal Myopathy

Human phenotypes related to Klhl9-Related Early-Onset Distal Myopathy:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0003458
2 ankle contracture 60 33 hallmark (90%) Very frequent (99-80%) HP:0006466
3 weakness of the intrinsic hand muscles 60 33 hallmark (90%) Very frequent (99-80%) HP:0009005
4 progressive distal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009063
5 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
6 impaired vibration sensation in the lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002166
7 amyotrophy of ankle musculature 60 33 frequent (33%) Frequent (79-30%) HP:0009031
8 steppage gait 60 33 frequent (33%) Frequent (79-30%) HP:0003376
9 intrinsic hand muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008954
10 abnormality of the calf musculature 60 33 frequent (33%) Frequent (79-30%) HP:0001430
11 absent patellar reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0006844
12 impaired distal tactile sensation 60 33 frequent (33%) Frequent (79-30%) HP:0006937
13 abnormal circulating creatine kinase concentration 33 frequent (33%) HP:0040081
14 absent achilles reflex 60 33 occasional (7.5%) Occasional (29-5%) HP:0003438
15 peripheral axonal neuropathy 60 33 very rare (1%) Very rare (<4-1%) HP:0003477
16 loss of ability to walk 60 33 very rare (1%) Very rare (<4-1%) HP:0006957
17 abnormal levels of creatine kinase in blood 60 Frequent (79-30%)
18 distal sensory impairment 60 Very frequent (99-80%)

Drugs & Therapeutics for Klhl9-Related Early-Onset Distal Myopathy

Search Clinical Trials , NIH Clinical Center for Klhl9-Related Early-Onset Distal Myopathy

Genetic Tests for Klhl9-Related Early-Onset Distal Myopathy

Anatomical Context for Klhl9-Related Early-Onset Distal Myopathy

Publications for Klhl9-Related Early-Onset Distal Myopathy

Variations for Klhl9-Related Early-Onset Distal Myopathy

Expression for Klhl9-Related Early-Onset Distal Myopathy

Search GEO for disease gene expression data for Klhl9-Related Early-Onset Distal Myopathy.

Pathways for Klhl9-Related Early-Onset Distal Myopathy

GO Terms for Klhl9-Related Early-Onset Distal Myopathy

Sources for Klhl9-Related Early-Onset Distal Myopathy

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
Content
Loading form....