AICAR
MCID: ACR122
MIFTS: 33

Aica-Ribosuria Due to Atic Deficiency (AICAR)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aica-Ribosuria Due to Atic Deficiency

MalaCards integrated aliases for Aica-Ribosuria Due to Atic Deficiency:

Name: Aica-Ribosuria Due to Atic Deficiency 57 72
Aicar Transformylase/imp Cyclohydrolase Deficiency 57 58 72 29 6 39
Aica-Ribosiduria Due to Atic Deficiency 57 58 13
Aica-Ribosiduria 58 72 36
Atic Deficiency 57 58
Aicar Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 70
5-Amino-4-Imidazole Carboxamide Ribosiduria 58
Aica-Ribosuria 72
Aicar 72

Characteristics:

Orphanet epidemiological data:

58
aica-ribosiduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
aica-ribosuria due to atic deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Aica-Ribosuria Due to Atic Deficiency

OMIM® : 57 AICA-ribosuria is characterized by severe to profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features include coarse facies and upturned nose. Early-onset epilepsy may occur. Less common features may include aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis (Ramond et al., 2020). (608688) (Updated 05-Apr-2021)

MalaCards based summary : Aica-Ribosuria Due to Atic Deficiency, also known as aicar transformylase/imp cyclohydrolase deficiency, is related to adenylosuccinase deficiency and yemenite deaf-blind hypopigmentation syndrome, and has symptoms including seizures An important gene associated with Aica-Ribosuria Due to Atic Deficiency is ATIC (5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase), and among its related pathways/superpathways are Purine metabolism and One carbon pool by folate. Affiliated tissues include eye and skin, and related phenotypes are brachycephaly and intellectual disability, severe

KEGG : 36 AICA-ribosiduria is a neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Defects of purine metabolism are characterised by abnormal concentrations of substrates of defective enzymes and/or their metabolites in cells or body fluids.

UniProtKB/Swiss-Prot : 72 AICAR transformylase/IMP cyclohydrolase deficiency: A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.

Related Diseases for Aica-Ribosuria Due to Atic Deficiency

Diseases related to Aica-Ribosuria Due to Atic Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 adenylosuccinase deficiency 10.3
2 yemenite deaf-blind hypopigmentation syndrome 10.2
3 hyperglycemia 10.1
4 non-alcoholic fatty liver disease 10.1
5 leukemia, chronic lymphocytic 10.0
6 prostate cancer 10.0
7 ataxia and polyneuropathy, adult-onset 10.0
8 leukemia, acute lymphoblastic 10.0
9 fatty liver disease, nonalcoholic 1 10.0
10 hyperinsulinism 10.0
11 insulinoma 10.0
12 precursor t-cell acute lymphoblastic leukemia 10.0
13 coarctation of aorta 10.0
14 scoliosis 10.0
15 nephrocalcinosis 10.0
16 colorectal cancer 9.9
17 fibrosis of extraocular muscles, congenital, 1 9.9
18 hypercholesterolemia, familial, 1 9.9
19 renal cell carcinoma, nonpapillary 9.9
20 retinoblastoma 9.9
21 ataxia-telangiectasia 9.9
22 muscular dystrophy, duchenne type 9.9
23 aging 9.9
24 muscle hypertrophy 9.9
25 childhood acute lymphocytic leukemia 9.9
26 pre-eclampsia 9.9
27 leukemia 9.9
28 telangiectasis 9.9
29 lipid metabolism disorder 9.9
30 muscular atrophy 9.9
31 fatty liver disease 9.9
32 muscular dystrophy 9.9
33 hypoglycemia 9.9
34 melanoma, uveal 9.8
35 fanconi anemia, complementation group d2 9.8
36 fanconi anemia, complementation group a 9.8
37 proteasome-associated autoinflammatory syndrome 1 9.8
38 osteogenic sarcoma 9.8
39 body mass index quantitative trait locus 11 9.8
40 lesch-nyhan syndrome 9.8
41 body mass index quantitative trait locus 9 9.8
42 macular degeneration, age-related, 1 9.8
43 body mass index quantitative trait locus 8 9.8
44 body mass index quantitative trait locus 4 9.8
45 body mass index quantitative trait locus 10 9.8
46 body mass index quantitative trait locus 7 9.8
47 myocardial infarction 9.8
48 major depressive disorder 9.8
49 west nile virus 9.8
50 body mass index quantitative trait locus 12 9.8

Graphical network of the top 20 diseases related to Aica-Ribosuria Due to Atic Deficiency:



Diseases related to Aica-Ribosuria Due to Atic Deficiency

Symptoms & Phenotypes for Aica-Ribosuria Due to Atic Deficiency

Human phenotypes related to Aica-Ribosuria Due to Atic Deficiency:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
2 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
3 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
4 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
5 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
6 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
7 clitoral hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008665
8 fused labia minora 58 31 hallmark (90%) Very frequent (99-80%) HP:0000063
9 congenital blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007875
10 seizure 31 hallmark (90%) HP:0001250
11 seizures 58 Very frequent (99-80%)
12 frontal bossing 31 HP:0002007
13 anteverted nares 31 HP:0000463
14 optic atrophy 31 HP:0000648
15 atrial septal defect 31 HP:0001631
16 prominent nasal bridge 31 HP:0000426
17 abnormality of metabolism/homeostasis 31 HP:0001939
18 abnormality of the skin 31 HP:0000951
19 intellectual disability, profound 31 HP:0002187
20 generalized hypotonia 31 HP:0001290
21 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, profound

Head And Neck Nose:
anteverted nares
high nasal bridge

Head And Neck Face:
prominent forehead

Cardiovascular Heart:
atrial septal defect
aortic coarctation

Genitourinary External Genitalia Female:
fused labia minora
prominent clitoris

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral

Laboratory Abnormalities:
positive urinary bratton-marshall test
elevated urinary and csf 5-amino-4-imidazolecarboxamide (aica-riboside)
elevated erythrocyte aicar (zmp)
deficient fibroblast aicar-tf activity

Head And Neck Eyes:
nystagmus
optic atrophy
hypermetropia
congenital blindness
chorioretinal atrophy (in 1 patient)

Head And Neck Head:
brachycephaly

Head And Neck Ears:
low-set ears

Head And Neck Mouth:
wide mouth
thin upper lip

Abdomen Liver:
hepatomegaly (in 1 patient)
steatosis (in 1 patient)
hepatic insufficiency, mild (in 1 patient)

Skin Nails Hair Skin:
cutaneous dimples (knees, elbows, shoulders)

Clinical features from OMIM®:

608688 (Updated 05-Apr-2021)

UMLS symptoms related to Aica-Ribosuria Due to Atic Deficiency:


seizures

Drugs & Therapeutics for Aica-Ribosuria Due to Atic Deficiency

Search Clinical Trials , NIH Clinical Center for Aica-Ribosuria Due to Atic Deficiency

Genetic Tests for Aica-Ribosuria Due to Atic Deficiency

Genetic tests related to Aica-Ribosuria Due to Atic Deficiency:

# Genetic test Affiliating Genes
1 Aicar Transformylase/imp Cyclohydrolase Deficiency 29 ATIC

Anatomical Context for Aica-Ribosuria Due to Atic Deficiency

MalaCards organs/tissues related to Aica-Ribosuria Due to Atic Deficiency:

40
Eye, Skin

Publications for Aica-Ribosuria Due to Atic Deficiency

Articles related to Aica-Ribosuria Due to Atic Deficiency:

# Title Authors PMID Year
1
AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case. 6 57 61
32557644 2020
2
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. 57 6
15114530 2004
3
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. 57
22180458 2012
4
Crystal structure of a bifunctional transformylase and cyclohydrolase enzyme in purine biosynthesis. 57
11323713 2001

Variations for Aica-Ribosuria Due to Atic Deficiency

ClinVar genetic disease variations for Aica-Ribosuria Due to Atic Deficiency:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATIC NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg) SNV Pathogenic 7810 rs121434478 GRCh37: 2:216209551-216209551
GRCh38: 2:215344828-215344828
2 ATIC ATIC, 125-129DUP, 130-132DEL Duplication Pathogenic 7811 GRCh37:
GRCh38:
3 ATIC NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter) SNV Pathogenic 666360 rs1389373911 GRCh37: 2:216213967-216213967
GRCh38: 2:215349244-215349244
4 ATIC NM_004044.7(ATIC):c.245del (p.Pro82fs) Deletion Pathogenic 1030738 GRCh37: 2:216184408-216184408
GRCh38: 2:215319685-215319685
5 ATIC NM_004044.7(ATIC):c.688+1G>A SNV Pathogenic 1033630 GRCh37: 2:216191702-216191702
GRCh38: 2:215326979-215326979
6 ATIC NM_004044.7(ATIC):c.923-2A>G SNV Pathogenic 1033631 GRCh37: 2:216199640-216199640
GRCh38: 2:215334917-215334917
7 ATIC NM_004044.7(ATIC):c.1085A>G (p.Tyr362Cys) SNV Likely pathogenic 801894 rs755898039 GRCh37: 2:216200834-216200834
GRCh38: 2:215336111-215336111
8 ATIC NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) SNV Uncertain significance 666359 rs1575116846 GRCh37: 2:216190736-216190736
GRCh38: 2:215326013-215326013
9 ATIC NM_004044.7(ATIC):c.1474G>T (p.Asp492Tyr) SNV Uncertain significance 1030737 GRCh37: 2:216211635-216211635
GRCh38: 2:215346912-215346912
10 ATIC NM_004044.7(ATIC):c.1751A>G (p.His584Arg) SNV Uncertain significance 548528 rs201429123 GRCh37: 2:216214350-216214350
GRCh38: 2:215349627-215349627
11 ATIC NM_004044.7(ATIC):c.794del (p.Phe265fs) Deletion Uncertain significance 561183 rs754173354 GRCh37: 2:216197208-216197208
GRCh38: 2:215332485-215332485
12 ATIC NM_004044.7(ATIC):c.548C>A (p.Ala183Glu) SNV Uncertain significance 638424 rs761526509 GRCh37: 2:216191561-216191561
GRCh38: 2:215326838-215326838
13 ATIC NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) SNV Benign 801893 rs2372536 GRCh37: 2:216190020-216190020
GRCh38: 2:215325297-215325297

UniProtKB/Swiss-Prot genetic disease variations for Aica-Ribosuria Due to Atic Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 ATIC p.Lys426Arg VAR_019307 rs121434478

Expression for Aica-Ribosuria Due to Atic Deficiency

Search GEO for disease gene expression data for Aica-Ribosuria Due to Atic Deficiency.

Pathways for Aica-Ribosuria Due to Atic Deficiency

Pathways related to Aica-Ribosuria Due to Atic Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 One carbon pool by folate hsa00670

GO Terms for Aica-Ribosuria Due to Atic Deficiency

Sources for Aica-Ribosuria Due to Atic Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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