Aliases & Classifications for Plasma Fibronectin Deficiency

MalaCards integrated aliases for Plasma Fibronectin Deficiency:

Name: Plasma Fibronectin Deficiency 53 28 13

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
plasma fibronectin deficiency:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 53 614101
MedGen 39 C2675436
SNOMED-CT via HPO 65 263681008

Summaries for Plasma Fibronectin Deficiency

MalaCards based summary : Plasma Fibronectin Deficiency is related to cataract 32, multiple types and reye syndrome. An important gene associated with Plasma Fibronectin Deficiency is FN1 (Fibronectin 1). Affiliated tissues include myeloid.

Description from OMIM: 614101

Related Diseases for Plasma Fibronectin Deficiency

Diseases related to Plasma Fibronectin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 32, multiple types 9.7
2 reye syndrome 9.7

Symptoms & Phenotypes for Plasma Fibronectin Deficiency

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
plasma fibronectin deficiency


Clinical features from OMIM:

614101

Drugs & Therapeutics for Plasma Fibronectin Deficiency

Search Clinical Trials , NIH Clinical Center for Plasma Fibronectin Deficiency

Genetic Tests for Plasma Fibronectin Deficiency

Genetic tests related to Plasma Fibronectin Deficiency:

# Genetic test Affiliating Genes
1 Plasma Fibronectin Deficiency 28 FN1

Anatomical Context for Plasma Fibronectin Deficiency

MalaCards organs/tissues related to Plasma Fibronectin Deficiency:

38
Myeloid

Publications for Plasma Fibronectin Deficiency

Articles related to Plasma Fibronectin Deficiency:

# Title Authors Year
1
Plasma fibronectin deficiency impedes atherosclerosis progression and fibrous cap formation. ( 22514136 )
2012
2
Plasma fibronectin deficiency in eight members of one family. ( 2869211 )
1986
3
Plasma fibronectin deficiency in Reye syndrome. ( 6470865 )
1984
4
Plasma fibronectin deficiency during chemotherapy of acute myeloid leukaemia. ( 6574587 )
1983
5
Reversal of plasma fibronectin deficiency in septic-injured patients by cryoprecipitate infusion. ( 6757957 )
1982

Variations for Plasma Fibronectin Deficiency

Expression for Plasma Fibronectin Deficiency

Search GEO for disease gene expression data for Plasma Fibronectin Deficiency.

Pathways for Plasma Fibronectin Deficiency

GO Terms for Plasma Fibronectin Deficiency

Sources for Plasma Fibronectin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....