INTRODUCTION Purine nucleotides are essential components of a number of vital biomolecules, such as nucleic acids, coenzymes (NAD, NADP, FAD and coenzyme A), signaling molecules [e.g. cyclic adenosine monophosphate (cAMP)] and chemical energy transfer [academic.oup.com]

CAMP G:600474. . CAMSAP1 G:613774. . CAMSAP2 G:613775. . CAMSAP3 G:612685. . CAMTA1 G:611501. . CAMTA2 G:611508. . CAND1 G:607727. . CAND2 G:610403. . CANDN1 P:607644. . CANT1 G:613165. Desbuquois dysplasia, 251450 (3) CANX G:114217. . [usegalaxy.org]

[…] references: 1 OMIM reference - No MeSH references External references: 1 OMIM reference - No MeSH references Pyogenic arthritis - pyoderma gangrenosum - acne Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia / fatigue [csbg.cnb.csic.es]

[…] arthritis - pyoderma gangrenosum - acne Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia / fatigue / weakness - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Fever / chilling [csbg.cnb.csic.es]

[…] weakness - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Fever / chilling - Pustula / pustulosis - Restricted joint mobility / joint stiffness / ankylosis Frequent - Articular / joint pain / arthralgia - Lymphadenopathy [csbg.cnb.csic.es]

{Chronic infections, due to MBL deficiency}, 614372 (3) MBNL1 G:606516. . MBNL2 G:607327. . MBNL3 G:300413. . MBOAT1 G:611732. . MBOAT2 G:611949. . MBOAT4 G:611940. . MBOAT7 G:606048. . MBP G:159430. . MBS1 P:157900. . MBS2 P:601471. . [usegalaxy.org]

[…] reference - No MeSH references Pyogenic arthritis - pyoderma gangrenosum - acne Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia / fatigue / weakness - Autosomal dominant inheritance - Chronic skin infection / ulcerations [csbg.cnb.csic.es]

[…] and nail dystrophy (TIDAND) Pyogenic bacterial infections, recurrent, due to MYD88 deficiency Immune thrombocytopenia (ITP) Activated PI3K-delta syndrome (APDS) Wiskott-Aldrich syndrome DiGeorge syndrome Other immune system diseases Crohn’s disease Ulcerative [csirnotes.com]

{Buruli ulcer, susceptibility to}, 610446 (3) SLC11A1 G:600266. {Mycobacterium tuberculosis, susceptibility to infection by}, 607948 (3) SLC11A2 G:600523. [usegalaxy.org]

Affiliated tissues include skin, testes and eye, and related phenotypes are low-set ears and seizures [malacards.org]

Dysarthria Ptosis Hearing impairment Carious teeth Photophobia Headache Cryptorchidism Rod-cone dystrophy Anemia Cataract Wide mouth Prominent nasal bridge Thin upper lip vermilion Abnormality of the genital system Delayed speech and language development Low-set [mendelian.co]

Asthenia / fatigue / weakness - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Fever / chilling - Pustula / pustulosis - Restricted joint mobility / joint stiffness / ankylosis Frequent - Articular / joint pain / arthralgia [csbg.cnb.csic.es]

stiffness / ankylosis Frequent - Articular / joint pain / arthralgia - Lymphadenopathy / polyadenopathies - Monoclonal immunoglobulins / gammapathy / dysglobulinemia Occasional - Biological inflammatory syndrome / increased erythrocyte sedimentation [csbg.cnb.csic.es]

Incubation of her fibroblasts with AICA-riboside led to accumulation of AICAR, not observed in control cells, suggesting impairment of the final steps of purine biosynthesis, catalyzed by the bifunctional enzyme AICAR transformylase/IMP cyclohydrolase [ncbi.nlm.nih.gov]

Signal overlap suggestive of protein compartmentalization was detected in two cell lines from patients with the type II form of the disease (Figs 5 C9 and C10, 6 C9 and C10 and 7 C8 and C9). [academic.oup.com]

These subjects would have had a level of RBC MTX PG which we suggest would have been low. [ard.bmj.com]

AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. [malacards.org]

AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. {ECO:0000269 PubMed:15114530}. Note The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

[…] dominant External references: 1 OMIM reference - No MeSH references External references: 1 OMIM reference - No MeSH references Pyogenic arthritis - pyoderma gangrenosum - acne Very frequent - Acne / acnea - Arthritis / synovitis / synovial proliferation - Asthenia [csbg.cnb.csic.es]

Chuvash erythrocytosis AICA-ribosiduria INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) VHL ( 0.63 ) ATIC Citations in the biomedical literature: Chuvash erythrocytosis AICA-ribosiduria Synonym(s): - Chuvash polycythemia - Von Hippel-Lindau-dependent [csbg.cnb.csic.es]

Erythrocytosis, familial, 3, 609820 (3) EGLN2 G:606424. . EGLN3 G:606426. . EGOT G:611662. . EGR1 G:128990. . [usegalaxy.org]

Cancers Cancers of eye, brain, and central nervous system Retinoblastoma Glioma Neuroblastoma Schwannoma Meningioma Medulloblastoma Cancers of the digestive system Esophageal cancer Gastric cancer Carcinoid Colorectal cancer Cancer of the anal canal Hepatocellular [csirnotes.com]

Hepatocellular carcinoma, somatic, 114550 (3) CASP8 G:601763. Immunodeficiency due to CASP8 deficiency, 607271 (3) CASP8 G:601763. {Breast cancer, protection against}, 114480 (3) CASP8 G:601763. [usegalaxy.org]