Carbohydrate deficient glycoprotein syndrome type V

disorder

SNOMED 709412006CUI C2930997

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.

Abnormal circulating enzyme concentration or activity

Always present (100%)HP:0012379

Areflexia

Always present (100%)HP:0001284

Psychomotor development deficiency

Always present (100%)HP:0001263

Ataxia

Frequent (30-79%)HP:0001251

Brain and/or spinal cord issue

Frequent (30-79%)HP:0000707

Epilepsy

Frequent (30-79%)HP:0001250

Feeding difficulties

Frequent (30-79%)HP:0011968

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Abnormal skeletal development

Occasional (5-29%)HP:0002652

Abnormality of the coagulation cascade

Occasional (5-29%)HP:0003256

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Dysmorphic facies

Occasional (5-29%)HP:0001999

Hypoalbuminaemia

Occasional (5-29%)HP:0003073

Increased distance between eyes

Occasional (5-29%)HP:0000316

Lingual hyperplasia

Occasional (5-29%)HP:0000158

Liver disease

Occasional (5-29%)HP:0001392

Low-set ears

Occasional (5-29%)HP:0000369

Protein C deficiency

Occasional (5-29%)HP:0005543

Protein-losing enteropathy

Occasional (5-29%)HP:0002243

Reduced antithrombin antigen

Occasional (5-29%)HP:0040246

Reduced factor XI activity

Occasional (5-29%)HP:0001929

Reduced protein S activity

Occasional (5-29%)HP:0004855

Shortening of all outermost bones of the fingers

Occasional (5-29%)HP:0006118

Skeletal anomalies

Occasional (5-29%)HP:0000924

Squint

Occasional (5-29%)HP:0000486

Type I transferrin isoform profile

Occasional (5-29%)HP:0003642

Yellowing of the skin

Occasional (5-29%)HP:0000952

Brachydactyly

Very rare (1-4%)HP:0001156

Related Conditions

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 709412006
UMLS CUI: C2930997
Fully Specified Name: Congenital disorder of glycosylation type 1c (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.