MCID: MLT143
MIFTS: 11

Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Categories: Blood diseases, Rare diseases, Skin diseases

Aliases & Classifications for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

MalaCards integrated aliases for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome:

Name: Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
multiple sclerosis-ichthyosis-factor viii deficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare skin diseases
Rare haematological diseases


Summaries for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

MalaCards based summary : Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome Affiliated tissues include skin, and related phenotypes are diplopia and ataxia

Related Diseases for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Symptoms & Phenotypes for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Human phenotypes related to Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000651
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
5 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
6 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
7 sensory neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000763
8 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
9 abnormality of coagulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001928
10 retrobulbar optic neuritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100654
11 abnormal leukocyte morphology 31 hallmark (90%) HP:0001881
12 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
13 abnormality of leukocytes 58 Very frequent (99-80%)

Drugs & Therapeutics for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Search Clinical Trials , NIH Clinical Center for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Genetic Tests for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Anatomical Context for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

MalaCards organs/tissues related to Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome:

40
Skin

Publications for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Variations for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Expression for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Search GEO for disease gene expression data for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome.

Pathways for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

GO Terms for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome

Sources for Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency 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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