MCID: CPH003
MIFTS: 10

Cephalin Lipidosis

Aliases & Classifications for Cephalin Lipidosis

MalaCards integrated aliases for Cephalin Lipidosis:

Name: Cephalin Lipidosis 58 30 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cephalin lipidosis:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 212800
MedGen 43 C1859307
UMLS 74 C1859307

Summaries for Cephalin Lipidosis

MalaCards based summary : Cephalin Lipidosis Affiliated tissues include spleen, liver and spinal cord, and related phenotypes are intellectual disability and abnormality of metabolism/homeostasis

Description from OMIM: 212800

Related Diseases for Cephalin Lipidosis

Symptoms & Phenotypes for Cephalin Lipidosis

Human phenotypes related to Cephalin Lipidosis:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 abnormality of the spleen 33 HP:0001743

Symptoms via clinical synopsis from OMIM:

58
Neuro:
mental retardation

Lab:
lipid deposits, liver, spleen, cerebral cortex and spinal cord

Spleen:
enlarged

Clinical features from OMIM:

212800

Drugs & Therapeutics for Cephalin Lipidosis

Search Clinical Trials , NIH Clinical Center for Cephalin Lipidosis

Genetic Tests for Cephalin Lipidosis

Genetic tests related to Cephalin Lipidosis:

# Genetic test Affiliating Genes
1 Cephalin Lipidosis 30

Anatomical Context for Cephalin Lipidosis

MalaCards organs/tissues related to Cephalin Lipidosis:

42
Spleen, Liver, Spinal Cord, Cortex

Publications for Cephalin Lipidosis

Variations for Cephalin Lipidosis

Expression for Cephalin Lipidosis

Search GEO for disease gene expression data for Cephalin Lipidosis.

Pathways for Cephalin Lipidosis

GO Terms for Cephalin Lipidosis

Sources for Cephalin Lipidosis

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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