Deutsch
IllnessAnonychia, differential diagnosis
Summary
Short information
A curated panel containing 4 core candidate genes and altogether 7 genes for the comprehensive analysis of the genetically caused forms of anonychia
ID
AP0710
Number of genes
4
Accredited laboratory test
Examined sequence length
14,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Group of diseases
ORPHA:94150 Anonychia congenita totalis
ORPHA:69125 Anonychia with flexural pigmentation
ORPHA:1094 Anonychia-microcephaly syndrome
ORPHA:90390 Anonychia-onychodystrophy syndrome
ORPHA:1487 Cooks syndrome Synonym: Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
ORPHA:79143 Isolated congenital anonychia Synonym: Isolated anonychia
Synonyms
- Alias: Isolated congenital anonychia
- Allelic: Epidermolysis bullosa dystrophica inversa (COL7A1)
- Allelic: Epidermolysis bullosa dystrophica, AD + AR (COL7A1)
- Allelic: Epidermolysis bullosa dystrophica, Bart type (COL7A1)
- Allelic: Epidermolysis bullosa dystrophica, localisata variant (COL7A1)
- Allelic: Epidermolysis bullosa pruriginosa (COL7A1)
- Allelic: Epidermolysis bullosa, pretibial (COL7A1)
- Allelic: Transient bullous of the newborn (COL7A1)
- Anonychia congenita (RSPO4)
- Jawad syndrome (RBBP8)
- Nail disorder, nonsyndromic congenital, 1 (FZD6)
- Nail disorder, nonsyndromic congenital, 3, leukonychia (PLCD1)
- Odontoonychodermal dysplasia (WNT10A)
- Toenail dystrophy, isolated; Dystrophic epidermolysis bullosa (COL7A1)
- Zimmermann-Laband syndrome 2 (ATP6V1B2)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined