PCNA-related progressive neurodegenerative photosensitivity syndrome

disorder

SNOMED 1228871002CUI C4014676

Overview

PCNA-related progressive neurodegenerative photosensitivity syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Ataxia

Always present (100%)HP:0001251

Cutaneous telangiectasia

Always present (100%)HP:0034697

Sensorineural deafness

Always present (100%)HP:0000407

Unsteady walk

Always present (100%)HP:0002317

Cutaneous photosensitivity

Very frequent (80-99%)HP:0000992

Hearing impairment

Very frequent (80-99%)HP:0000365

Inability to coordinate movements when walking

Very frequent (80-99%)HP:0002066

Neurodegenerative disease

Very frequent (80-99%)HP:0002180

Photophobia

Very frequent (80-99%)HP:0000613

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Teleangiectasia of the skin

Very frequent (80-99%)HP:0100585

Absent pubertal growth spurt

Frequent (30-79%)HP:0031087

Decreased body height

Frequent (30-79%)HP:0004322

Mental retardation, mild

Frequent (30-79%)HP:0001256

Progeroid facial appearance

Frequent (30-79%)HP:0005328

Retinal telangiectasia

Frequent (30-79%)HP:0007763

Small dilated blood vessels near membrane covering front of eye and eyelids

Frequent (30-79%)HP:0000524

Abnormal tissue mass

Occasional (5-29%)HP:0002664

Atrophic cerebellum

Occasional (5-29%)HP:0001272

Decreased size of cranium

Occasional (5-29%)HP:0000252

Diaphragmatic hernia

Occasional (5-29%)HP:0000776

Joint contracture

Occasional (5-29%)HP:0034392

Mental retardation, severe

Occasional (5-29%)HP:0010864

Deglutition disorder

HP:0002015

Difficulty articulating speech

HP:0001260

Muscle weakness

HP:0001324

Pes cavus

HP:0001761

Progressive muscle weakness

HP:0003323

Related Conditions

Chronic nervous system disease(parent)

Hereditary disorder of nervous system(parent)

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Developmental hereditary disorder(parent)

Congenital sensorineural hearing loss(parent)

Congenital degeneration of nervous system(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 1228871002
UMLS CUI: C4014676
Fully Specified Name: Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.