Lipoid Proteinosis Of Urbach And Wiethe
Description
Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).
Genes related to Lipoid Proteinosis Of Urbach And Wiethe
- ECM1
Clinical Features
Top most frequent phenotypes and symptoms related to Lipoid Proteinosis Of Urbach And Wiethe
- Intellectual disability
- Seizures
- Pica
- High palate
- Tics
- Dysphagia
- Dystonia
- Recurrent respiratory infections
- Alopecia
- Absent speech
Incidence and onset information
— Not enough data available about incidence and published cases.
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Lipoid Proteinosis Of Urbach And Wiethe Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Urbach-Wiethe disease (sequence analysis of ECM1 gene).
By CGC Genetics in Portugal.
ECM1
Specificity
100 %
Genes
100 % |
Retinitis pigmentosa (NGS panel for 72 genes).
By CGC Genetics in Portugal.
ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)
View the complete list with 52 more genes
Specificity
2 %
Genes
100 % |
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics in Portugal.
GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)
View the complete list with 88 more genes
Specificity
1 %
Genes
100 % |
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics in Portugal.
GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)
View the complete list with 88 more genes
Specificity
1 %
Genes
100 % |
ECM1.
By Fulgent Genetics Fulgent Genetics in United States.
ECM1
Specificity
100 %
Genes
100 % |
Comprehensive Epilepsy Panel.
By Blueprint Genetics in Finland.
HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)
View the complete list with 263 more genes
Specificity
1 %
Genes
100 % |
Lipoid Proteinosis: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
ECM1
Specificity
100 %
Genes
100 % |
Alternate names
Lipoid Proteinosis Of Urbach And Wiethe Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae;hyalinosis cutis et mucosae; urbach-wiethe disease.
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