MCID: CRB187
MIFTS: 8

Cerebral Sclerosis, Diffuse, Scholz Type

Aliases & Classifications for Cerebral Sclerosis, Diffuse, Scholz Type

MalaCards integrated aliases for Cerebral Sclerosis, Diffuse, Scholz Type:

Name: Cerebral Sclerosis, Diffuse, Scholz Type 58

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
cerebral sclerosis, diffuse, scholz type:
Onset and clinical course juvenile onset
Inheritance x-linked inheritance


Summaries for Cerebral Sclerosis, Diffuse, Scholz Type

MalaCards based summary : Cerebral Sclerosis, Diffuse, Scholz Type Related phenotypes are hearing impairment and blindness

Description from OMIM: 302700

Related Diseases for Cerebral Sclerosis, Diffuse, Scholz Type

Symptoms & Phenotypes for Cerebral Sclerosis, Diffuse, Scholz Type

Human phenotypes related to Cerebral Sclerosis, Diffuse, Scholz Type:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 HP:0000365
2 blindness 33 HP:0000618
3 dementia 33 HP:0000726
4 spastic paraplegia 33 HP:0001258
5 lower limb muscle weakness 33 HP:0007340

Symptoms via clinical synopsis from OMIM:

58
Eyes:
blindness

Ears:
deafness

Limbs:
leg weakness and spasticity

Neuro:
dementia
spastic paraplegia

Misc:
onset in first decade

Clinical features from OMIM:

302700

Drugs & Therapeutics for Cerebral Sclerosis, Diffuse, Scholz Type

Search Clinical Trials , NIH Clinical Center for Cerebral Sclerosis, Diffuse, Scholz Type

Genetic Tests for Cerebral Sclerosis, Diffuse, Scholz Type

Anatomical Context for Cerebral Sclerosis, Diffuse, Scholz Type

Publications for Cerebral Sclerosis, Diffuse, Scholz Type

Variations for Cerebral Sclerosis, Diffuse, Scholz Type

Expression for Cerebral Sclerosis, Diffuse, Scholz Type

Search GEO for disease gene expression data for Cerebral Sclerosis, Diffuse, Scholz Type.

Pathways for Cerebral Sclerosis, Diffuse, Scholz Type

GO Terms for Cerebral Sclerosis, Diffuse, Scholz Type

Sources for Cerebral Sclerosis, Diffuse, Scholz Type

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
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