Aliases & Classifications for Tuftsin Deficiency

MalaCards integrated aliases for Tuftsin Deficiency:

Name: Tuftsin Deficiency 56 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
tuftsin deficiency:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 191150
MedGen 41 C0398741
SNOMED-CT via HPO 68 263681008
UMLS 71 C0398741

Summaries for Tuftsin Deficiency

MalaCards based summary : Tuftsin Deficiency is related to human immunodeficiency virus type 1 and crohn's disease. Affiliated tissues include spleen, and related phenotypes are abnormality of the spleen and recurrent infections

Wikipedia : 74 Tuftsin is a tetrapeptide (Thr-Lys-Pro-Arg) located in the Fc-domain of the heavy chain of... more...

More information from OMIM: 191150

Related Diseases for Tuftsin Deficiency

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

# Related Disease Score Top Affiliating Genes
1 human immunodeficiency virus type 1 10.0
2 crohn's disease 10.0

Symptoms & Phenotypes for Tuftsin Deficiency

Human phenotypes related to Tuftsin Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the spleen 31 HP:0001743
2 recurrent infections 31 HP:0002719

Symptoms via clinical synopsis from OMIM:

56
Lab:
congenital tuftsin deficiency

Misc:
repeated severe infections
tuftsin is absent after splenectomy
post-splenectomy problems with infection

Clinical features from OMIM:

191150

Drugs & Therapeutics for Tuftsin Deficiency

Search Clinical Trials , NIH Clinical Center for Tuftsin Deficiency

Genetic Tests for Tuftsin Deficiency

Anatomical Context for Tuftsin Deficiency

MalaCards organs/tissues related to Tuftsin Deficiency:

40
Spleen

Publications for Tuftsin Deficiency

Articles related to Tuftsin Deficiency:

(show all 25)
# Title Authors PMID Year
1
Biochemical aspects of tuftsin deficiency syndrome. 61 56
6895538 1981
2
Tuftsin deficiency syndrome. A report of two new cases. 61 56
4128875 1973
3
Defective phagocytosis due to tuftsin deficiency in splenectomized subjects. 61 56
4512464 1973
4
Tuftsin deficiency: a new syndrome with defective phagocytosis. 61 56
4111394 1972
5
Isolation and subunit composition of tuftsin receptor. 56
3463958 1986
6
Tuftsin (an Ig-associated tetrapeptide) triggers the immunogenic function of macrophages: implications for activation of programmed cells. 56
277940 1978
7
Decreased tuftsin concentrations in patients who have undergone splenectomy. 56
579324 1977
8
Impaired tuftsin activity in cirrhosis: relationship with splenic function and clinical outcome. 61
11950821 2002
9
[Tuftsin deficiency]. 61
11212673 2000
10
Impaired splenic function and tuftsin deficiency in patients with intestinal failure on long term intravenous nutrition. 61
9824601 1998
11
[Congenital familial tuftsin deficiency]. 61
9833430 1998
12
Splenic autotransplantation after abdominal trauma in childhood. Clinical and experimental data. 61
9408398 1997
13
[Autologous spleen transplantation]. 61
8421623 1993
14
Tuftsin deficiency in AIDS. 61
1670648 1991
15
Tuftsin stimulates IL-1 production by human mononuclear cells, human spleen cells and mouse spleen cells in vitro. 61
2786082 1989
16
[The effect of splenectomy in immature mice]. 61
3600585 1987
17
Effects of tuftsin on postsplenectomy sepsis. 61
4002117 1985
18
Congenital tuftsin deficiency. 61
6201116 1983
19
Acquired tuftsin deficiency. 61
6424535 1983
20
Tuftsin, a natural activator of phagocyte cells: an overview. 61
6370072 1983
21
Preservation of splenic function by autotransplantation of traumatized spleen in man. 61
7281006 1981
22
Decreased serum tuftsin concentrations in sickle cell disease. 61
6893650 1980
23
The clinical and physiological aspects of tuftsin deficiency syndromes exhibiting defective phagocytosis. 61
385971 1979
24
Defective phagocytosis due to deficiencies involving the tetrapeptide tuftsin. 61
1242395 1975
25
[Tuftsin deficiency]. 61
4125356 1973

Variations for Tuftsin Deficiency

Expression for Tuftsin Deficiency

Search GEO for disease gene expression data for Tuftsin Deficiency.

Pathways for Tuftsin Deficiency

GO Terms for Tuftsin Deficiency

Sources for Tuftsin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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