IllnessMicrophthalmia with Linear Skin Defects Syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microphthalmia with Linear Skin Defects Syndrome comprising 5 curated genes according to the clinical signs

MP9922

Number of genes

4 Accredited laboratory test

Examined sequence length

1,6 kb (Core-/Core-canditate-Genes)
2,9 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
COX7B	243	300885	NM_001866.3	XL
HCCS	807	300056	NM_005333.5	XL
NDUFB11	462	300403	NM_001135998.3	XL
PORCN	1386	300651	NM_203475.3	XL

Informations about the disease

Synonyms

Alias: MIDAS [MLS] syndrome
Alias: Microphthalmia-dermal aplasia-sclerocornea syndrome
Alias: Syndromic microphthalmia type 7
Allelic: Immunodeficiency 33 (IKBKG)
Allelic: Incontinentia pigmenti (IKBKG)
Allelic: Mitochondrial complex I deficiency, nuclear type 30 (NDUFB11)
Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
Focal dermal hypoplasia (PORCN)
Linear skin defects with multiple congenital anomalies 1 (HCCS)
Linear skin defects with multiple congenital anomalies 2 (COX7B)
Linear skin defects with multiple congenital anomalies 3 (NDUFB11)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined