Cerebro-cutaneous syndrome with iron overload

disorder

SNOMED 774151000CUI C4751570

Overview

Cerebro-cutaneous syndrome with iron overload 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.

Cognitive delay

Always present (100%)HP:0001263

Decreased hepcidin level

Always present (100%)HP:0031876

Elevated hepatic iron concentration

Always present (100%)HP:0012465

Elevated transferrin saturation

Always present (100%)HP:0012463

High glutamic acid levels in cerebrospinal fluid

Always present (100%)HP:0500200

Increased circulating iron concentration

Always present (100%)HP:0003452

No speech development

Always present (100%)HP:0001344

Seizures

Always present (100%)HP:0001250

Truncal hypotonia

Always present (100%)HP:0008936

Atrophic cerebellum

Frequent (30-79%)HP:0001272

CVI

Frequent (30-79%)HP:0100704

Deafness

Frequent (30-79%)HP:0000365

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dysseborrheic dermatitis

Frequent (30-79%)HP:0001051

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Enlarged liver

Frequent (30-79%)HP:0002240

Extensor plantar responses

Frequent (30-79%)HP:0003487

Flexion contractures

Frequent (30-79%)HP:0001371

Gingival hyperplasia

Frequent (30-79%)HP:0000212

Ichthyosiform abnormality of the skin

Frequent (30-79%)HP:0008064

Increased serum ferritin level

Frequent (30-79%)HP:0003281

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Large spleen

Frequent (30-79%)HP:0001744

Muscle atrophy, generalised

Frequent (30-79%)HP:0003700

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Small teeth

Frequent (30-79%)HP:0000691

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Wide-spaced teeth

Frequent (30-79%)HP:0000687

Ataxia

Occasional (5-29%)HP:0001251

Cirrhosis

Occasional (5-29%)HP:0001394

Related Conditions

Digestive system hereditary disorder(parent)

Iron overload(parent)

Metabolic and genetic disorder affecting the liver(parent)

Hereditary degenerative disease of central nervous system(parent)

X-linked recessive hereditary disease(parent)

Degenerative brain disorder(parent)

Quick Facts

SNOMED CT: 774151000
UMLS CUI: C4751570
Fully Specified Name: Ferro-cerebro-cutaneous syndrome (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.