MCID: SPL064
MIFTS: 9

Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells

Aliases & Classifications for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

MalaCards integrated aliases for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells:

Name: Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 53 183350
MedGen 39 C1866744

Summaries for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

MalaCards based summary : Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells and has symptoms including splenomegaly, pancytopenia and hypersplenism. Affiliated tissues include lymph node.

Description from OMIM: 183350

Related Diseases for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

Symptoms & Phenotypes for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

Symptoms via clinical synopsis from OMIM:

53
GI:
splenomegaly

Immunology:
cutaneous anergy

Heme:
hypersplenism

Lab:
reduced circulating t-helper cells
splenic and lymph node germinal center hypoplasia
pancytopenia
reversed t4/t8 ratio


Clinical features from OMIM:

183350

Human phenotypes related to Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells:

31
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 pancytopenia 31 HP:0001876
3 hypersplenism 31 HP:0001971
4 cutaneous anergy 31 HP:0002965
5 decreased proportion circulating t-helper cells 31 HP:0008165

Drugs & Therapeutics for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

Search Clinical Trials , NIH Clinical Center for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells

Genetic Tests for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

Anatomical Context for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

MalaCards organs/tissues related to Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells:

38
Lymph Node

Publications for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

Variations for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

Expression for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

Search GEO for disease gene expression data for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells.

Pathways for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

GO Terms for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

Sources for Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and...

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
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