Aliases & Classifications for Plasma Fibronectin Deficiency

MalaCards integrated aliases for Plasma Fibronectin Deficiency:

Name: Plasma Fibronectin Deficiency 57 29 13 6
Deficiency, Plasma Fibronectin 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
plasma fibronectin deficiency:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 614101
MedGen 41 C2675436
SNOMED-CT via HPO 68 263681008

Summaries for Plasma Fibronectin Deficiency

MalaCards based summary : Plasma Fibronectin Deficiency, also known as deficiency, plasma fibronectin, is related to atherosclerosis susceptibility and reye syndrome. An important gene associated with Plasma Fibronectin Deficiency is FN1 (Fibronectin 1). Affiliated tissues include myeloid and endothelial, and related phenotype is reduced circulating fibronectin level.

More information 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 atherosclerosis susceptibility 9.9
2 reye syndrome 9.9
3 myeloid leukemia 9.9

Symptoms & Phenotypes for Plasma Fibronectin Deficiency

Human phenotypes related to Plasma Fibronectin Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 reduced circulating fibronectin level 31 very rare (1%) HP:0032463

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
plasma fibronectin deficiency

Clinical features from OMIM®:

614101 (Updated 05-Apr-2021)

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 29

Anatomical Context for Plasma Fibronectin Deficiency

MalaCards organs/tissues related to Plasma Fibronectin Deficiency:

40
Myeloid, Endothelial

Publications for Plasma Fibronectin Deficiency

Articles related to Plasma Fibronectin Deficiency:

(show all 17)
# Title Authors PMID Year
1
Plasma fibronectin deficiency in eight members of one family. 57 61
2869211 1986
2
Plasma fibronectin deficiency impedes atherosclerosis progression and fibrous cap formation. 61
22514136 2012
3
Hepatic removal of 125I-DLT gelatin after burn injury: a model of soluble collagenous debris that interacts with plasma fibronectin. 61
8336079 1993
4
Effect of fibronectin on permeability of normal and TNF-treated lung endothelial cell monolayers. 61
8430891 1993
5
Plasma fibronectin levels during cardiopulmonary bypass. 61
2272956 1990
6
Effect of fibronectin-rich human cryoprecipitate on fluid volume requirements in sheep during postoperative sepsis. 61
3130490 1988
7
Enhanced endotoxin effects in plasma fibronectin-deficient rats. 61
3298066 1987
8
Plasma fibronectin. 61
3790862 1986
9
Reversal of opsonic deficiency in surgical, trauma, and burn patients by infusion of purified human plasma fibronectin. Correlation with experimental observations. 61
3946437 1986
10
Lung vascular injury with protease infusion. Relationship to plasma fibronectin. 61
4015230 1985
11
Lung fluid and protein flux during postoperative sepsis. 61
4053299 1985
12
Plasma fibronectin deficiency in Reye syndrome. 61
6470865 1984
13
Reversal of fibronectin and opsonic deficiency in patients. A controlled study. 61
6362585 1984
14
Lung vascular permeability after reversal of fibronectin deficiency in septic sheep. Correlation with patient studies. 61
6416192 1983
15
Plasma fibronectin deficiency during chemotherapy of acute myeloid leukaemia. 61
6574587 1983
16
Reversal of plasma fibronectin deficiency in septic-injured patients by cryoprecipitate infusion. 61
6757957 1982
17
Influence of opsonic fibronectin deficiency on lung fluid balance during bacterial sepsis. 61
7440283 1980

Variations for Plasma Fibronectin Deficiency

ClinVar genetic disease variations for Plasma Fibronectin Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FN1 NM_212482.3(FN1):c.5651A>G (p.Tyr1884Cys) SNV not provided 585091 rs199890235 GRCh37: 2:216242957-216242957
GRCh38: 2:215378234-215378234

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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