AICA-ribosiduria

General Information (adopted from Orphanet):

Synonyms, Signs: AICA-ribosuria due to atic deficiency
5-amino-4-imidazole carboxamide ribosiduria
ATIC deficiency
Number of Symptoms 32
OrphanetNr: 250977
OMIM Id: 608688
ICD-10: E79.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 cases - PMID: 15114530 [IBIS]
Inheritance: Autosomal recessive
- PMID: 15114530 [IBIS]
Age of onset: Neonatal
Infancy
- PMID: 15114530 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Disorder of purine metabolism
 -Rare genetic disease
Genetic macular dystrophy
 -Rare eye disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010781) Skin dimples 15114530 IBIS 5 / 7739
2
 (HPO:0007661) Abnormality of chorioretinal pigmentation 15114530 IBIS 2 / 7739
3
 (HPO:0000648) Optic atrophy 15114530 IBIS 238 / 7739
4
 (HPO:0000512) Abnormal electroretinogram 15114530 IBIS 61 / 7739
5
 (HPO:0000565) Esotropia 15114530 IBIS 58 / 7739
6
 (HPO:0000649) Abnormality of visual evoked potentials 15114530 IBIS 34 / 7739
7
 (HPO:0007875) Congenital blindness 15114530 IBIS 9 / 7739
8
 (HPO:0001998) Neonatal hypoglycemia 15114530 IBIS 22 / 7739
9
 (HPO:0002902) Hyponatremia 15114530 IBIS 37 / 7739
10
 (HPO:0001939) Abnormality of metabolism/homeostasis 15114530 IBIS 328 / 7739
11
 (HPO:0001252) Muscular hypotonia 15114530 IBIS 990 / 7739
12
 (HPO:0008947) Infantile muscular hypotonia 15114530 IBIS 482 / 7739
13
 (HPO:0001319) Neonatal hypotonia 15114530 IBIS 101 / 7739
14
 (HPO:0001263) Global developmental delay 15114530 IBIS 853 / 7739
15
 (HPO:0002187) Intellectual disability, profound 15114530 IBIS 44 / 7739
16
 (HPO:0001250) Seizures 15114530 IBIS 1245 / 7739
17
 (HPO:0011165) Visual auras 15114530 IBIS 3 / 7739
18
 (HPO:0000248) Brachycephaly 15114530 IBIS 222 / 7739
19
 (HPO:0011220) Prominent forehead 15114530 IBIS 137 / 7739
20
 (HPO:0005487) Prominent metopic ridge 15114530 IBIS 28 / 7739
21
 (HPO:0001684) Secundum atrial septal defect 15114530 IBIS 14 / 7739
22
 (HPO:0000057) Clitoromegaly 15114530 IBIS 30 / 7739
23
 (HPO:0000063) Fused labia minora 15114530 IBIS 3 / 7739
24
 (HPO:0001999) Abnormal facial shape 15114530 IBIS 169 / 7739
25
 (HPO:0000219) Thin upper lip vermilion 15114530 IBIS 112 / 7739
26
 (HPO:0000154) Wide mouth 15114530 IBIS 137 / 7739
27
 (HPO:0000463) Anteverted nares 15114530 IBIS 305 / 7739
28
 (HPO:0000426) Prominent nasal bridge 15114530 IBIS 121 / 7739
29
 (HPO:0000369) Low-set ears 15114530 IBIS 372 / 7739
30
 (HPO:0000951) Abnormality of the skin 15114530 IBIS 147 / 7739
31
 (HPO:0030148) Heart murmur 15114530 IBIS 29 / 7739
32
 (OMIM) Positive urinary Bratton-Marshall test 15114530 IBIS 1 / 7739

Associated genes:

ATIC;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Marie et al. (2004) described a 4-year-old girl who presented with a devastating neurologic picture involving profound mental retardation, epilepsy, dysmorphic features, and congenital blindness. Dysmorphic features included cutaneous dimples on the extensor side of knees, elbows, and shoulders. ...
Molecular genetics OMIM Marie et al. (2004) performed sequence analysis of the ATIC gene in their patient with AICA-ribosuria and found compound heterozygosity for mutations. A missense mutation (K426R; 601731.0001) in the transformylase region was inherited from the father, and a frameshift ...