ICAS
MCID: ASP026
MIFTS: 35

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 58 26 76 30 13 6
Splenic Hypoplasia 58 76 74
Icas 58 26 76
Hyposplenia, Isolated Congenital 58 26
Asplenia, Familial 58 26
Familial Isolated Congenital Asplenia 60
Congenital Hypoplasia of Spleen 26
Congenital Isolated Hyposplenia 76
Isolated Congenital Asplenia 26
Hypoplasia of Spleen 26
Hypoplasia, Splenic 41
Spenlic Hypoplasia 26
Familial Asplenia 76

Characteristics:

Orphanet epidemiological data:

60
familial isolated congenital asplenia
Inheritance: Autosomal dominant;

OMIM:

58
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:

33
asplenia, isolated congenital:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 271400
MeSH 45 D007153
ICD10 34 Q89.0
ICD10 via Orphanet 35 Q89.0
Orphanet 60 ORPHA101351
UMLS 74 C0685889

Summaries for Asplenia, Isolated Congenital

UniProtKB/Swiss-Prot : 76 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 schizophrenia and diabetes mellitus, insulin-dependent. An important gene associated with Asplenia, Isolated Congenital is RPSA (Ribosomal Protein SA). Affiliated tissues include spleen, pituitary and bone, and related phenotypes are thrombocytosis and abnormality of metabolism/homeostasis

Genetics Home Reference : 26 Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While most individuals with this condition have no spleen at all, some people have a very small, nonfunctional spleen (hyposplenism).

OMIM : 58 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 top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 schizophrenia 10.3
2 diabetes mellitus, insulin-dependent 10.3
3 diabetes mellitus 10.2
4 stroke, ischemic 10.1
5 myocardial infarction 10.1
6 interstitial cystitis 10.1
7 cystitis 10.1
8 rere-related disorders 10.1
9 moyamoya disease 1 10.0
10 scapuloperoneal myopathy, x-linked dominant 10.0
11 muscle hypertrophy 10.0
12 acute myocardial infarction 10.0
13 epilepsy 10.0
14 focal epilepsy 10.0
15 pituitary adenoma 10.0
16 adenoma 10.0
17 myoclonus 10.0
18 pneumococcal meningitis 9.9
19 gracile bone dysplasia 9.9
20 alcohol dependence 9.8
21 arteries, anomalies of 9.8
22 multiple sclerosis 9.8
23 guillain-barre syndrome, familial 9.8
24 motion sickness 9.8
25 neurofibromatosis, type iv, of riccardi 9.8
26 down syndrome 9.8
27 autism 9.8
28 cystic fibrosis 9.8
29 asthma 9.8
30 sickle cell anemia 9.8
31 intervertebral disc disease 9.8
32 autoimmune disease 1 9.8
33 major depressive disorder 9.8
34 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
35 warsaw breakage syndrome 9.8
36 bipolar disorder 9.8
37 congestive heart failure 9.8
38 coronary artery anomaly 9.8
39 lambert-eaton myasthenic syndrome 9.8
40 autism spectrum disorder 9.8
41 atrial fibrillation 9.8
42 mumps 9.8
43 mastitis 9.8
44 acoustic neuroma 9.8
45 guillain-barre syndrome 9.8
46 carotid stenosis 9.8
47 dementia 9.8
48 diarrhea 9.8
49 mental depression 9.8
50 neurilemmoma 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

Human phenotypes related to Asplenia, Isolated Congenital:

33
# Description HPO Frequency HPO Source Accession
1 thrombocytosis 33 occasional (7.5%) HP:0001894
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 asplenia 33 HP:0001746
4 abnormality of abdomen morphology 33 HP:0001438

Symptoms via clinical synopsis from OMIM:

58
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

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 30 RPSA

Anatomical Context for Asplenia, Isolated Congenital

MalaCards organs/tissues related to Asplenia, Isolated Congenital:

42
Spleen, Pituitary, Bone, Heart, T Cells

Publications for Asplenia, Isolated Congenital

Articles related to Asplenia, Isolated Congenital:

(show all 32)
# Title Authors Year
1
Intermittent Catheterization Adherence Scale (ICAS): A new tool for the evaluation of patient adherence with clean intermittent self-catheterization. ( 29953666 )
2018
2
Genetic Variation of the Kalirin Gene is Associated with ICAS in the Chinese Population. ( 30232674 )
2018
3
Association of multiple infarctions and ICAS with outcomes of minor stroke and TIA. ( 28202699 )
2017
4
Effect of Dipeptidyl Peptidase-4 Inhibitors on Cardiovascular Outcome and Cardiac Function in Patients With Diabetes and Heart Failure - Insights From the Ibaraki Cardiac Assessment Study-Heart Failure (ICAS-HF) Registry. ( 28592726 )
2017
5
Tirofiban facilitates the reperfusion process during endovascular thrombectomy in ICAS. ( 28912883 )
2017
6
Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review. ( 29485259 )
2016
7
Congenital Splenic Hypoplasia in an Elderly Patient. ( 27374693 )
2016
8
Dual antiplatelet therapy in stroke and ICAS: Subgroup analysis of CHANCE. ( 26330567 )
2015
9
Drug-eluting versus bare-metal stents in large coronary arteries of patients with ST-segment elevation myocardial infarction: findings from the ICAS registry. ( 24685689 )
2014
10
Bilateral vertebral artery dissection, agenesis of both ICAs, and connective tissue aberrations. ( 23568999 )
2013
11
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. ( 23579497 )
2013
12
Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. ( 22560297 )
2012
13
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. ( 20846672 )
2011
14
Radiology quiz case 2. Bilateral tortuous internal carotid arteries (ICAs). ( 20403862 )
2010
15
Validation of the Intelligent Cognitive Assessment System (ICAS) for stroke survivors. ( 20545457 )
2010
16
ICAS 2009: Intracranial Atherosclerosis from a to V. ( 29125438 )
2010
17
Effect of hospital case volume on treatment and in-hospital outcomes in patients undergoing percutaneous coronary intervention for acute myocardial infarction. Results from the Ibaraki Coronary Artery Disease Study (ICAS) Registry. ( 18612183 )
2008
18
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
19
Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology. ( 16770805 )
2006
20
Poor perceptions and expectations of asthma control: results of the International Control of Asthma Symptoms (ICAS) survey of patients and general practitioners. ( 16701738 )
2005
21
Lethal pneumococcal infection in an 18-month-old girl with splenic hypoplasia and dysgammaglobulinemia. ( 11757727 )
2001
22
Mice lacking pituitary tumor transforming gene show testicular and splenic hypoplasia, thymic hyperplasia, thrombocytopenia, aberrant cell cycle progression, and premature centromere division. ( 11682618 )
2001
23
[Congenital asplenia. A childhood immune deficit often detected too late]. ( 9162158 )
1997
24
Comparing the ICAS and the MAC as Indirect Alcoholism Scales: methodological considerations and implications for further research. ( 7995675 )
1994
25
Resurrecting the ICAS: a competitor for the MAC in screening medical patients for alcoholism? ( 3384976 )
1988
26
Persistent negativity of ICAs during preclinical period and at acute onset in 2 cases of IDDM. ( 3297583 )
1987
27
Recurrent meningitis in a child with combined IgA deficiency and splenic hypoplasia. ( 7259285 )
1981
28
Polysplenia syndrome and splenic hypoplasia associated with extrahepatic biliary atresia. ( 6892684 )
1980
29
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs. ( 4774542 )
1973
30
Teratogenicity of vitamin B6 deficiency: omphalocele, skeletal and neural defects, and splenic hypoplasia. ( 5454144 )
1970
31
Hereditary splenic hypoplasia. ( 5685358 )
1968
32
Heinz body anaemia with splenic hypoplasia. ( 13821634 )
1960

Variations for Asplenia, Isolated Congenital

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

76
# 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 18)
# 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 GRCh38 Chromosome 3, 39407678: 39407678
4 RPSA NM_002295.5(RPSA): c.25C> T (p.Gln9Ter) single nucleotide variant Pathogenic rs397514759 GRCh37 Chromosome 3, 39449169: 39449169
5 RPSA NM_002295.5(RPSA): c.590_594dup (p.Pro199Serfs) duplication Pathogenic rs398122389 GRCh37 Chromosome 3, 39453231: 39453235
6 RPSA NM_002295.5(RPSA): c.590_594dup (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
17 RPSA NM_002295.6(RPSA): c.498+8T> A single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 39452498: 39452498
18 RPSA NM_002295.6(RPSA): c.498+8T> A single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 39411007: 39411007

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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75 UMLS via Orphanet
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