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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t helper cells:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 183350
MedGen 42 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 Affiliated tissues include lymph node, and related phenotypes are splenomegaly and pancytopenia

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 pancytopenia 32 HP:0001876
3 hypersplenism 32 HP:0001971
4 cutaneous anergy 32 HP:0002965
5 decreased proportion circulating t-helper cells 32 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:

41
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
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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