Syndromic multisystem autoimmune disease due to ITCH deficiency

disorder

SNOMED 778023004CUI C4755273

Overview

Syndromic multisystem autoimmune disease due to ITCH deficiency 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.

Chronic lung disease

Very frequent (80-99%)HP:0006528

Failure to thrive in first year of life

Very frequent (80-99%)HP:0001531

Hepatosplenomegaly

Very frequent (80-99%)HP:0001433

Malformation of face

Very frequent (80-99%)HP:0001999

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Relatively large head

Very frequent (80-99%)HP:0004482

Anti-thyroid peroxidase antibody positivity

Frequent (30-79%)HP:0025379

Autoimmunity

Frequent (30-79%)HP:0002960

Hepatitis

Frequent (30-79%)HP:0012115

Hypersplenism

Frequent (30-79%)HP:0001971

Hypothyroidism

Frequent (30-79%)HP:0000821

Hypotonia, early

Frequent (30-79%)HP:0008947

PEG-fed in infancy

Frequent (30-79%)HP:0011471

Predisposition to infections

Frequent (30-79%)HP:0002719

Prominent globes

Frequent (30-79%)HP:0000520

Thyroid gland inflammation

Frequent (30-79%)HP:0100646

Abnormality of the intestine

Occasional (5-29%)HP:0002242

Acute liver failure

Occasional (5-29%)HP:0006554

Anti-glutamic acid decarboxylase antibody positivity

Occasional (5-29%)HP:0025329

Antineutrophil antibody positivity

Occasional (5-29%)HP:0003453

Camptodactyly

Occasional (5-29%)HP:0012385

Choanal atresia

Occasional (5-29%)HP:0000453

Cholangitis

Occasional (5-29%)HP:0030151

Cirrhosis

Occasional (5-29%)HP:0001394

Curvature of digit

Occasional (5-29%)HP:0030084

Eye drop

Occasional (5-29%)HP:0000508

Frontal protuberance

Occasional (5-29%)HP:0002007

Insulin receptor antibody positivity

Occasional (5-29%)HP:0031104

Narrow head shape

Occasional (5-29%)HP:0000268

Neutropenia in presence of anti-neutropil antibodies

Occasional (5-29%)HP:0001904

Related Conditions

Autoimmune disease(parent)

Congenital immunodeficiency disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Primary immune deficiency disorder(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 778023004
UMLS CUI: C4755273
Fully Specified Name: Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (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.