ICAS
MCID: ASP026
MIFTS: 33

Asplenia, Isolated Congenital (ICAS)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune 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:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


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 schizophrenia. An important gene associated with Asplenia, Isolated Congenital is RPSA (Ribosomal Protein SA). Affiliated tissues include spleen, bone 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

Diseases related to Asplenia, Isolated Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 10.3
2 schizophrenia 10.0
3 scapuloperoneal myopathy, x-linked dominant 10.0
4 epilepsy 10.0
5 focal epilepsy 10.0
6 myoclonus 10.0
7 gracile bone dysplasia 9.9
8 autoimmune disease 9.8
9 motion sickness 9.8
10 neurofibromatosis, type iv, of riccardi 9.8
11 autism 9.8
12 moyamoya disease 1 9.8
13 stroke, ischemic 9.8
14 sickle cell anemia 9.8
15 autoimmune disease 1 9.8
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
17 warsaw breakage syndrome 9.8
18 muscle hypertrophy 9.8
19 bipolar disorder 9.8
20 lambert-eaton myasthenic syndrome 9.8
21 autism spectrum disorder 9.8
22 atrial fibrillation 9.8
23 mastitis 9.8
24 guillain-barre syndrome 9.8
25 interstitial cystitis 9.8
26 cystitis 9.8
27 pituitary adenoma 9.8
28 cavernous sinus meningioma 9.8
29 schizoaffective disorder 9.8
30 kidney disease 9.8
31 adenoma 9.8
32 acth-secreting pituitary adenoma 9.8
33 frontal fibrosing alopecia 9.8
34 monogenic diabetes 9.8
35 prosthetic joint infection 9.8
36 cerebral aneurysms 9.8
37 juvenile nasopharyngeal angiofibroma 9.8
38 right atrial isomerism 9.8
39 premature centromere division 9.8
40 thrombocytopenia 9.8
41 immunoglobulin alpha deficiency 9.8
42 omphalocele 9.8
43 dysgammaglobulinemia 9.8
44 biliary atresia 9.8
45 meningitis 9.8

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
Abdomen Spleen:
asplenia
hyposplenia

Immunology:
recurrent severe and invasive bacterial infections

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


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, Bone, Pituitary, Kidney, T Cells

Publications for Asplenia, Isolated Congenital

Articles related to Asplenia, Isolated Congenital:

(show all 12)
# Title Authors Year
1
Congenital Splenic Hypoplasia in an Elderly Patient. ( 27374693 )
2016
2
Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review. ( 29485259 )
2016
3
Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology. ( 16770805 )
2006
4
Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, "osteocraniostenosis" and Kleeblattschädel. ( 17036309 )
2006
5
Lethal pneumococcal infection in an 18-month-old girl with splenic hypoplasia and dysgammaglobulinemia. ( 11757727 )
2001
6
Mice lacking pituitary tumor transforming gene show testicular and splenic hypoplasia, thymic hyperplasia, thrombocytopenia, aberrant cell cycle progression, and premature centromere division. ( 11682618 )
2001
7
Recurrent meningitis in a child with combined IgA deficiency and splenic hypoplasia. ( 7259285 )
1981
8
Polysplenia syndrome and splenic hypoplasia associated with extrahepatic biliary atresia. ( 6892684 )
1980
9
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. ( 4774542 )
1973
10
Teratogenicity of vitamin B6 deficiency: omphalocele, skeletal and neural defects, and splenic hypoplasia. ( 5454144 )
1970
11
Hereditary splenic hypoplasia. ( 5685358 )
1968
12
Heinz body anaemia with splenic hypoplasia. ( 13821634 )
1960

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 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-5 NM_004387.3(NKX2-5): c.707C> A (p.Pro236His) single nucleotide variant Uncertain significance rs397515399 GRCh37 Chromosome 5, 172659840: 172659840
2 NKX2-5 NM_004387.3(NKX2-5): c.707C> A (p.Pro236His) single nucleotide variant Uncertain significance rs397515399 GRCh38 Chromosome 5, 173232837: 173232837
3 RPSA NM_002295.5(RPSA): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs397514759 GRCh37 Chromosome 3, 39449169: 39449169
4 RPSA NM_002295.5(RPSA): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs397514759 GRCh38 Chromosome 3, 39407678: 39407678
5 RPSA NM_002295.5(RPSA): c.590_594dupTCATG (p.Pro199Serfs) duplication Pathogenic rs398122389 GRCh37 Chromosome 3, 39453231: 39453235
6 RPSA NM_002295.5(RPSA): c.590_594dupTCATG (p.Pro199Serfs) duplication Pathogenic rs398122389 GRCh38 Chromosome 3, 39411740: 39411744
7 RPSA NM_002295.5(RPSA): c.538C> G (p.Arg180Gly) single nucleotide variant Pathogenic rs397514760 GRCh37 Chromosome 3, 39453179: 39453179
8 RPSA NM_002295.5(RPSA): c.538C> G (p.Arg180Gly) single nucleotide variant Pathogenic rs397514760 GRCh38 Chromosome 3, 39411688: 39411688
9 RPSA NM_002295.5(RPSA): c.538C> T (p.Arg180Trp) single nucleotide variant Pathogenic rs397514760 GRCh37 Chromosome 3, 39453179: 39453179
10 RPSA NM_002295.5(RPSA): c.538C> T (p.Arg180Trp) single nucleotide variant Pathogenic rs397514760 GRCh38 Chromosome 3, 39411688: 39411688
11 RPSA NM_002295.5(RPSA): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs397514761 GRCh37 Chromosome 3, 39453197: 39453197
12 RPSA NM_002295.5(RPSA): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs397514761 GRCh38 Chromosome 3, 39411706: 39411706
13 RPSA NM_002295.5(RPSA): c.161C> A (p.Thr54Asn) single nucleotide variant Pathogenic rs397514762 GRCh37 Chromosome 3, 39450124: 39450124
14 RPSA NM_002295.5(RPSA): c.161C> A (p.Thr54Asn) single nucleotide variant Pathogenic rs397514762 GRCh38 Chromosome 3, 39408633: 39408633
15 RPSA NM_002295.5(RPSA): c.172C> T (p.Leu58Phe) single nucleotide variant Pathogenic rs397514763 GRCh37 Chromosome 3, 39450135: 39450135
16 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
33 ICD10
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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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