MCID: ASP026
MIFTS: 30

Asplenia, Isolated Congenital

Categories: Genetic diseases, Fetal diseases, Blood diseases, Rare diseases

Aliases & Classifications for Asplenia, Isolated Congenital

MalaCards integrated aliases for Asplenia, Isolated Congenital:

Name: Asplenia, Isolated Congenital 57 75 29 13 6
Splenic Hypoplasia 57 75 73
Icas 57 75
Familial Isolated Congenital Asplenia 59
Hyposplenia, Isolated Congenital 57
Congenital Isolated Hyposplenia 75
Hypoplasia, Splenic 40
Asplenia, Familial 57
Familial Asplenia 75

Characteristics:

Orphanet epidemiological data:

59
familial isolated congenital asplenia
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
life-threatening in infancy due to sepsis
most patients have severe streptococcus pneumoniae infections
incidence of 0.51 per million in france


HPO:

32
asplenia, isolated congenital:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 271400
Orphanet 59 ORPHA101351
ICD10 via Orphanet 34 Q89.0
MeSH 44 D007153
ICD10 33 Q89.0
UMLS 73 C0685889

Summaries for Asplenia, Isolated Congenital

UniProtKB/Swiss-Prot : 75 Asplenia, isolated congenital: A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome.

MalaCards based summary : Asplenia, Isolated Congenital, also known as splenic hypoplasia, is related to diabetes mellitus and type i. An important gene associated with Asplenia, Isolated Congenital is RPSA (Ribosomal Protein SA). Affiliated tissues include spleen and pituitary, and related phenotypes are abnormality of metabolism/homeostasis and thrombocytosis

OMIM : 57 Isolated congenital asplenia is a rare cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome (208530) (summary by Mahlaoui et al., 2011). (271400)

Related Diseases for Asplenia, Isolated Congenital

Graphical network of the top 20 diseases related to Asplenia, Isolated Congenital:



Diseases related to Asplenia, Isolated Congenital

Symptoms & Phenotypes for Asplenia, Isolated Congenital

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
asplenia
hyposplenia

Laboratory Abnormalities:
howell-jolly bodies seen in peripheral blood smear
thrombocytosis (in some patients)

Immunology:
recurrent severe and invasive bacterial infections


Clinical features from OMIM:

271400

Human phenotypes related to Asplenia, Isolated Congenital:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 thrombocytosis 32 occasional (7.5%) HP:0001894
3 asplenia 32 HP:0001746
4 abnormality of abdomen morphology 32 HP:0001438

Drugs & Therapeutics for Asplenia, Isolated Congenital

Search Clinical Trials , NIH Clinical Center for Asplenia, Isolated Congenital

Genetic Tests for Asplenia, Isolated Congenital

Genetic tests related to Asplenia, Isolated Congenital:

# Genetic test Affiliating Genes
1 Asplenia, Isolated Congenital 29 RPSA

Anatomical Context for Asplenia, Isolated Congenital

MalaCards organs/tissues related to Asplenia, Isolated Congenital:

41
Spleen, Pituitary

Publications for Asplenia, Isolated Congenital

Articles related to Asplenia, Isolated Congenital:

# Title Authors Year
1
Lethal pneumococcal infection in an 18-month-old girl with splenic hypoplasia and dysgammaglobulinemia. ( 11757727 )
2001
2
Mice lacking pituitary tumor transforming gene show testicular and splenic hypoplasia, thymic hyperplasia, thrombocytopenia, aberrant cell cycle progression, and premature centromere division. ( 11682618 )
2001
3
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. ( 4774542 )
1973
4
Teratogenicity of vitamin B6 deficiency: omphalocele, skeletal and neural defects, and splenic hypoplasia. ( 5454144 )
1970

Variations for Asplenia, Isolated Congenital

UniProtKB/Swiss-Prot genetic disease variations for Asplenia, Isolated Congenital:

75
# Symbol AA change Variation ID SNP ID
1 RPSA p.Thr54Asn VAR_075092 rs397514762
2 RPSA p.Leu58Phe VAR_075093 rs397514763
3 RPSA p.Arg180Gly VAR_075094 rs397514760
4 RPSA p.Arg180Trp VAR_075095 rs397514760
5 RPSA p.Arg186Cys VAR_075097 rs397514761

ClinVar genetic disease variations for Asplenia, Isolated Congenital:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPSA NM_002295.5(RPSA): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs397514759 GRCh37 Chromosome 3, 39449169: 39449169
2 RPSA NM_002295.5(RPSA): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs397514759 GRCh38 Chromosome 3, 39407678: 39407678
3 RPSA NM_002295.5(RPSA): c.590_594dupTCATG (p.Pro199Serfs) duplication Pathogenic rs398122389 GRCh37 Chromosome 3, 39453231: 39453235
4 RPSA NM_002295.5(RPSA): c.590_594dupTCATG (p.Pro199Serfs) duplication Pathogenic rs398122389 GRCh38 Chromosome 3, 39411740: 39411744
5 RPSA NM_002295.5(RPSA): c.538C> G (p.Arg180Gly) single nucleotide variant Pathogenic rs397514760 GRCh37 Chromosome 3, 39453179: 39453179
6 RPSA NM_002295.5(RPSA): c.538C> G (p.Arg180Gly) single nucleotide variant Pathogenic rs397514760 GRCh38 Chromosome 3, 39411688: 39411688
7 RPSA NM_002295.5(RPSA): c.538C> T (p.Arg180Trp) single nucleotide variant Pathogenic rs397514760 GRCh37 Chromosome 3, 39453179: 39453179
8 RPSA NM_002295.5(RPSA): c.538C> T (p.Arg180Trp) single nucleotide variant Pathogenic rs397514760 GRCh38 Chromosome 3, 39411688: 39411688
9 RPSA NM_002295.5(RPSA): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs397514761 GRCh37 Chromosome 3, 39453197: 39453197
10 RPSA NM_002295.5(RPSA): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs397514761 GRCh38 Chromosome 3, 39411706: 39411706
11 RPSA NM_002295.5(RPSA): c.161C> A (p.Thr54Asn) single nucleotide variant Pathogenic rs397514762 GRCh37 Chromosome 3, 39450124: 39450124
12 RPSA NM_002295.5(RPSA): c.161C> A (p.Thr54Asn) single nucleotide variant Pathogenic rs397514762 GRCh38 Chromosome 3, 39408633: 39408633
13 RPSA NM_002295.5(RPSA): c.172C> T (p.Leu58Phe) single nucleotide variant Pathogenic rs397514763 GRCh37 Chromosome 3, 39450135: 39450135
14 RPSA NM_002295.5(RPSA): c.172C> T (p.Leu58Phe) single nucleotide variant Pathogenic rs397514763 GRCh38 Chromosome 3, 39408644: 39408644

Expression for Asplenia, Isolated Congenital

Search GEO for disease gene expression data for Asplenia, Isolated Congenital.

Pathways for Asplenia, Isolated Congenital

GO Terms for Asplenia, Isolated Congenital

Sources for Asplenia, Isolated Congenital

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74 UMLS via Orphanet
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