lipoid proteinosis
Findings
No curated finding names lipoid proteinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.
Definition from the Mondo Disease Ontology (MONDO:0009530), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hoarse voiceHPOHP:0001609
- 10 of 10 reported patients · Infantile onset
- Very frequent (80% to 99% of cases)
- Multiple eyelid beaded papulesHPOHP:6000842
- 1 of 1 reported patient
- ScarringHPOHP:0100699
- 9 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal blistering of the skinHPOHP:0008066
- 1 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal gingiva morphologyHPOHP:0000168
- Very frequent (80% to 99% of cases)
- Abnormal oral mucosa morphologyHPOHP:0011830
Show the remaining 18
- Tongue nodulesHPOHP:0000199
- Very frequent (80% to 99% of cases)
- Alopecia of scalpHPOHP:0002293
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- HyperkeratosisHPOHP:0000962
- 1 of 10 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ECM1HGNC:3153
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: lipoid proteinosis
- Also called
- hyalinosis cutis et mucosaelipid proteinosislipoproteinosisUrbach-Wiethe disease