MCID: CRB187
MIFTS: 9

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 57

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
blindness

Ears:
deafness

Limbs:
leg weakness and spasticity

Neuro:
dementia
spastic paraplegia

Misc:
onset in first decade


Clinical features from OMIM:

302700

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

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 blindness 32 HP:0000618
3 dementia 32 HP:0000726
4 spastic paraplegia 32 HP:0001258
5 lower limb muscle weakness 32 HP:0007340

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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