MCID: CPH003
MIFTS: 11

Cephalin Lipidosis

Aliases & Classifications for Cephalin Lipidosis

MalaCards integrated aliases for Cephalin Lipidosis:

Name: Cephalin Lipidosis 57 29 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cephalin lipidosis:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 212800
MedGen 42 C1859307
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
mental retardation

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

Spleen:
enlarged


Clinical features from OMIM:

212800

Human phenotypes related to Cephalin Lipidosis:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 abnormality of the spleen 32 HP:0001743

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 29

Anatomical Context for Cephalin Lipidosis

MalaCards organs/tissues related to Cephalin Lipidosis:

41
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 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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