AICAR
MCID: ACR118
MIFTS: 30

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 57 75 29 6 40
Aica-Ribosiduria 59 75 37
Aica-Ribosiduria Due to Atic Deficiency 57 13
Aica-Ribosuria Due to Atic Deficiency 57 75
Atic Deficiency 57 59
Aicar Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 73
5-Amino-4-Imidazole Carboxamide Ribosiduria 59
Aica-Ribosuria 75
Aicar 75

Characteristics:

Orphanet epidemiological data:

59
aica-ribosiduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
aicar transformylase/imp cyclohydrolase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aicar Transformylase/imp Cyclohydrolase Deficiency

UniProtKB/Swiss-Prot : 75 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 leukemia, 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 skin, testes and eye, and related phenotypes are low-set ears and seizures

Description from OMIM: 608688

Related Diseases for Aicar Transformylase/imp Cyclohydrolase Deficiency

Diseases related to Aicar Transformylase/imp Cyclohydrolase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 adenylosuccinase deficiency 11.1
2 leukemia 10.0
3 hyperglycemia 10.0
4 muscular atrophy 10.0
5 melanoma, uveal 9.9
6 prostate cancer 9.9
7 retinoblastoma 9.9
8 fanconi anemia, complementation group a 9.9
9 glutamate formiminotransferase deficiency 9.9
10 lesch-nyhan syndrome 9.9
11 leukemia, acute myeloid 9.9
12 leukemia, acute lymphoblastic 9.9
13 acute lymphoblastic leukemia, childhood 9.9
14 insulinoma 9.9
15 mantle cell lymphoma 9.9
16 spinal muscular atrophy 9.9
17 lymphocytic leukemia 9.9
18 thyroid cancer 9.9
19 melanoma 9.9
20 hyperinsulinism 9.9
21 kidney cancer 9.9
22 gallbladder cancer 9.9
23 myeloid leukemia 9.9
24 hypoglycemia 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Aicar Transformylase/imp Cyclohydrolase Deficiency:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
4 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
5 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
6 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
7 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
8 fused labia minora 59 32 hallmark (90%) Very frequent (99-80%) HP:0000063
9 congenital blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007875
10 clitoral hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008665
11 frontal bossing 32 HP:0002007
12 muscular hypotonia 32 HP:0001252
13 anteverted nares 32 HP:0000463
14 optic atrophy 32 HP:0000648
15 abnormality of metabolism/homeostasis 32 HP:0001939
16 atrial septal defect 32 HP:0001631
17 prominent nasal bridge 32 HP:0000426
18 intellectual disability, profound 32 HP:0002187
19 generalized hypotonia 32 HP:0001290
20 abnormality of the skin 32 HP:0000951

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 29 ATIC

Anatomical Context for Aicar Transformylase/imp Cyclohydrolase Deficiency

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

41
Skin, Testes, Eye, Kidney, Prostate, Thyroid, Myeloid

Publications for Aicar Transformylase/imp Cyclohydrolase Deficiency

Variations for Aicar Transformylase/imp Cyclohydrolase Deficiency

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

75
# 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 rs754173354 GRCh38 Chromosome 2, 215332487: 215332487
7 ATIC NM_004044.6(ATIC): c.794delT (p.Phe265Serfs) deletion Uncertain significance rs754173354 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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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