Multiple sclerosis - ichthyosis - factor VIII deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 3151
OMIM Id:
ICD-10: D66
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with other associated signs
 -Rare genetic disease
 -Rare skin disease
Rare hemorrhagic disorder due to a constitutional coagulation factors defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100654) Retrobulbar optic neuritis Very frequent [Orphanet] 5 / 7739
2
 (HPO:0000651) Diplopia Very frequent [Orphanet] 37 / 7739
3
 (HPO:0003474) Sensory impairment Very frequent [Orphanet] 54 / 7739
4
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
5
 (HPO:0002141) Gait imbalance Very frequent [Orphanet] 55 / 7739
6
 (HPO:0007256) Abnormal pyramidal signs Very frequent [Orphanet] 116 / 7739
7
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
8
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
9
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
10
 (HPO:0001877) Abnormality of erythrocytes Very frequent [Orphanet] 18 / 7739
11
 (HPO:0001928) Abnormality of coagulation Very frequent [Orphanet] 44 / 7739
12
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: