MCID: TCL011
MIFTS: 7

T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

Categories: Blood diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

MalaCards integrated aliases for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis:

Name: T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 60 6
T-Cell Immunodeficiency Due to Rhoh Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
t-cell immunodeficiency with epidermodysplasia verruciformis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 35 D84.8
Orphanet 60 ORPHA324294

Summaries for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

MalaCards based summary : T-Cell Immunodeficiency with Epidermodysplasia Verruciformis, is also known as t-cell immunodeficiency due to rhoh deficiency. An important gene associated with T-Cell Immunodeficiency with Epidermodysplasia Verruciformis is RHOH (Ras Homolog Family Member H). Affiliated tissues include t cells.

Related Diseases for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

Symptoms & Phenotypes for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

Drugs & Therapeutics for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

Search Clinical Trials , NIH Clinical Center for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

Genetic Tests for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

Anatomical Context for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

MalaCards organs/tissues related to T-Cell Immunodeficiency with Epidermodysplasia Verruciformis:

42
T Cells

Publications for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

Variations for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

ClinVar genetic disease variations for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 RHOH NM_004310.4(RHOH): c.144T> C (p.Asp48=) single nucleotide variant Likely benign rs76788449 GRCh38 Chromosome 4, 40243530: 40243530
2 RHOH NM_004310.4(RHOH): c.144T> C (p.Asp48=) single nucleotide variant Likely benign rs76788449 GRCh37 Chromosome 4, 40245150: 40245150
3 RHOH NM_004310.4(RHOH): c.537_539delAAG (p.Arg181del) deletion Uncertain significance rs757821004 GRCh38 Chromosome 4, 40243923: 40243925
4 RHOH NM_004310.4(RHOH): c.537_539delAAG (p.Arg181del) deletion Uncertain significance rs757821004 GRCh37 Chromosome 4, 40245543: 40245545
5 RHOH NM_004310.4(RHOH): c.42T> C (p.Ala14=) single nucleotide variant Likely benign rs114176176 GRCh38 Chromosome 4, 40243428: 40243428
6 RHOH NM_004310.4(RHOH): c.42T> C (p.Ala14=) single nucleotide variant Likely benign rs114176176 GRCh37 Chromosome 4, 40245048: 40245048
7 RHOH NM_004310.4(RHOH): c.510C> G (p.Ala170=) single nucleotide variant Benign rs61731758 GRCh37 Chromosome 4, 40245516: 40245516
8 RHOH NM_004310.4(RHOH): c.510C> G (p.Ala170=) single nucleotide variant Benign rs61731758 GRCh38 Chromosome 4, 40243896: 40243896
9 RHOH NM_004310.4(RHOH): c.510C> T (p.Ala170=) single nucleotide variant Benign rs61731758 GRCh37 Chromosome 4, 40245516: 40245516
10 RHOH NM_004310.4(RHOH): c.510C> T (p.Ala170=) single nucleotide variant Benign rs61731758 GRCh38 Chromosome 4, 40243896: 40243896
11 RHOH NM_004310.4(RHOH): c.181G> A (p.Gly61Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 40245187: 40245187
12 RHOH NM_004310.4(RHOH): c.181G> A (p.Gly61Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 40243567: 40243567

Expression for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

Search GEO for disease gene expression data for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis.

Pathways for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

GO Terms for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

Sources for T-Cell Immunodeficiency with Epidermodysplasia Verruciformis

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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