AICAR
MCID: ACR118
MIFTS: 31

Aicar Transformylase/imp Cyclohydrolase Deficiency (AICAR)

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

Aliases & Classifications for Aicar Transformylase/imp Cyclohydrolase Deficiency

MalaCards integrated aliases for Aicar Transformylase/imp Cyclohydrolase Deficiency:

Name: Aicar Transformylase/imp Cyclohydrolase Deficiency 58 76 30 6 41
Aica-Ribosiduria 60 76 38
Aica-Ribosiduria Due to Atic Deficiency 58 13
Aica-Ribosuria Due to Atic Deficiency 58 76
Atic Deficiency 58 60
Aicar Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 74
5-Amino-4-Imidazole Carboxamide Ribosiduria 60
Aica-Ribosuria 76
Aicar 76

Characteristics:

Orphanet epidemiological data:

60
aica-ribosiduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been reported (last curated august 2015)


HPO:

33
aicar transformylase/imp cyclohydrolase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aicar Transformylase/imp Cyclohydrolase Deficiency

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Aicar Transformylase/imp Cyclohydrolase Deficiency, also known as aica-ribosiduria, is related to adenylosuccinase deficiency and prostate cancer, and has symptoms including seizures An important gene associated with Aicar Transformylase/imp Cyclohydrolase 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 prostate, skin and testes, and related phenotypes are low-set ears and seizures

Description from OMIM: 608688

Related Diseases for Aicar Transformylase/imp Cyclohydrolase Deficiency

Graphical network of the top 20 diseases related to Aicar Transformylase/imp Cyclohydrolase Deficiency:



Diseases related to Aicar Transformylase/imp Cyclohydrolase Deficiency

Symptoms & Phenotypes for Aicar Transformylase/imp Cyclohydrolase Deficiency

Human phenotypes related to Aicar Transformylase/imp Cyclohydrolase Deficiency:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
4 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
5 prominent forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0011220
6 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
7 thin upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000219
8 fused labia minora 60 33 hallmark (90%) Very frequent (99-80%) HP:0000063
9 congenital blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0007875
10 clitoral hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008665
11 frontal bossing 33 HP:0002007
12 muscular hypotonia 33 HP:0001252
13 anteverted nares 33 HP:0000463
14 optic atrophy 33 HP:0000648
15 abnormality of metabolism/homeostasis 33 HP:0001939
16 atrial septal defect 33 HP:0001631
17 prominent nasal bridge 33 HP:0000426
18 intellectual disability, profound 33 HP:0002187
19 generalized hypotonia 33 HP:0001290
20 abnormality of the skin 33 HP:0000951

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Head And Neck Nose:
anteverted nares
high nasal bridge

Head And Neck Head:
brachycephaly

Cardiovascular Heart:
atrial septal defect

Genitourinary External Genitalia Female:
fused labia minora
prominent clitoris

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

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, profound

Head And Neck Eyes:
optic atrophy
congenital blindness

Head And Neck Face:
prominent forehead

Head And Neck Mouth:
wide mouth
thin upper lip

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

Clinical features from OMIM:

608688

UMLS symptoms related to Aicar Transformylase/imp Cyclohydrolase Deficiency:


seizures

Drugs & Therapeutics for Aicar Transformylase/imp Cyclohydrolase Deficiency

Search Clinical Trials , NIH Clinical Center for Aicar Transformylase/imp Cyclohydrolase Deficiency

Genetic Tests for Aicar Transformylase/imp Cyclohydrolase Deficiency

Genetic tests related to Aicar Transformylase/imp Cyclohydrolase Deficiency:

# Genetic test Affiliating Genes
1 Aicar Transformylase/imp Cyclohydrolase Deficiency 30 ATIC

Anatomical Context for Aicar Transformylase/imp Cyclohydrolase Deficiency

MalaCards organs/tissues related to Aicar Transformylase/imp Cyclohydrolase Deficiency:

42
Prostate, Skin, Testes, Eye, Kidney, Liver, Thyroid

Publications for Aicar Transformylase/imp Cyclohydrolase Deficiency

Articles related to Aicar Transformylase/imp Cyclohydrolase Deficiency:

# Title Authors Year
1
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. ( 22180458 )
2012
2
Diagnosing AICA-ribosiduria by capillary electrophoresis. ( 16798121 )
2006
3
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. ( 15114530 )
2004

Variations for Aicar Transformylase/imp Cyclohydrolase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Aicar Transformylase/imp Cyclohydrolase Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 ATIC p.Lys426Arg VAR_019307 rs121434478

ClinVar genetic disease variations for Aicar Transformylase/imp Cyclohydrolase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATIC NM_004044.6(ATIC): c.1277A> G (p.Lys426Arg) single nucleotide variant Pathogenic rs121434478 GRCh37 Chromosome 2, 216209551: 216209551
2 ATIC NM_004044.6(ATIC): c.1277A> G (p.Lys426Arg) single nucleotide variant Pathogenic rs121434478 GRCh38 Chromosome 2, 215344828: 215344828
3 ATIC ATIC, 125-129DUP, 130-132DEL duplication Pathogenic
4 ATIC NM_004044.6(ATIC): c.1751A> G (p.His584Arg) single nucleotide variant Uncertain significance rs201429123 GRCh37 Chromosome 2, 216214350: 216214350
5 ATIC NM_004044.6(ATIC): c.1751A> G (p.His584Arg) single nucleotide variant Uncertain significance rs201429123 GRCh38 Chromosome 2, 215349627: 215349627
6 ATIC NM_004044.6(ATIC): c.794delT (p.Phe265Serfs) deletion Uncertain significance GRCh38 Chromosome 2, 215332487: 215332487
7 ATIC NM_004044.6(ATIC): c.794delT (p.Phe265Serfs) deletion Uncertain significance GRCh37 Chromosome 2, 216197210: 216197210

Expression for Aicar Transformylase/imp Cyclohydrolase Deficiency

Search GEO for disease gene expression data for Aicar Transformylase/imp Cyclohydrolase Deficiency.

Pathways for Aicar Transformylase/imp Cyclohydrolase Deficiency

Pathways related to Aicar Transformylase/imp Cyclohydrolase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 One carbon pool by folate hsa00670

GO Terms for Aicar Transformylase/imp Cyclohydrolase Deficiency

Sources for Aicar Transformylase/imp Cyclohydrolase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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