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Phosphoribosylpyrophosphate synthetase superactivity

disorder
SNOMED 723454008CUI C1970827

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Birth weight less than 10th percentile
Always present (100%)HP:0001518
Concave bridge of nose
Always present (100%)HP:0005280
Cryptorchidism
Always present (100%)HP:0000028
Deafness
Always present (100%)HP:0000365
Decreased body height
Always present (100%)HP:0004322
Decreased hair growth
Always present (100%)HP:0008070
Down-slanting palpebral fissure
Always present (100%)HP:0000494
Eyelid ptosis
Always present (100%)HP:0000508
Glaucoma
Always present (100%)HP:0000501
High arched palate
Always present (100%)HP:0000218
Hooked nose
Always present (100%)HP:0000444
Hyperopia
Always present (100%)HP:0000540
Hypospadias
Always present (100%)HP:0000047
Increased phosphoribosylpyrophosphate synthetase level
Always present (100%)HP:0003240
Inverted triangular face
Always present (100%)HP:0000325
Large mouth
Always present (100%)HP:0000154
Low-set ears
Always present (100%)HP:0000369
Near sighted
Always present (100%)HP:0000545
Ocular hypotelorism
Always present (100%)HP:0000601
Palpebronasal fold
Always present (100%)HP:0000286
Peripheral axonal neuropathy
Always present (100%)HP:0003477
Peripheral neuropathy
Always present (100%)HP:0009830
Protruding forehead
Always present (100%)HP:0011220
Psychomotor development deficiency
Always present (100%)HP:0001263
Small nose
Always present (100%)HP:0003196
Susceptibility to infection
Always present (100%)HP:0002719
Urolithiasis
Always present (100%)HP:0034368
Ataxia
Very frequent (80-99%)HP:0001251
Hyperuricaemia
Very frequent (80-99%)HP:0002149
Sensorineural deafness
Very frequent (80-99%)HP:0000407

Related Conditions

Disorder of purine metabolism(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
723454008
UMLS CUI
C1970827
Fully Specified Name
Phosphoribosylpyrophosphate synthetase superactivity (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.