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IllnessCutis laxa, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Cutis laxa, autosomal rezessive, type 1, comprising altogether 23 curated genes according to the clinical signs
ID
CP9251
Number of loci
| Locus type | Count |
|---|---|
| Gen | 16 |
Examined sequence length
12,2 kb (Core-/Core-canditate-Genes)
31,3 kb (Extended panel: incl. additional genes)
31,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| ATP6V0A2 | 2571 | NM_012463.4 | AR | |
| EFEMP2 | 1332 | NM_016938.5 | AR | |
| ELN | 2175 | NM_000501.4 | AD | |
| FBLN5 | 1347 | NM_006329.4 | AR | |
| LTBP4 | 4763 | NM_003573.2 | AR | |
| ALDH18A1 | 2388 | NM_002860.4 | AD, AR | |
| ATP7A | 4503 | NM_000052.7 | XLR | |
| GORAB | 1185 | NM_152281.3 | AR | |
| PYCR1 | 960 | NM_006907.4 | AR | |
| SLC2A10 | 1626 | NM_030777.4 | AR | |
| SMAD2 | 1404 | NM_005901.6 | AD | |
| SMAD3 | 1278 | NM_005902.4 | AD | |
| TGFB2 | 1245 | NM_003238.6 | AD | |
| TGFB3 | 1239 | NM_003239.5 | AD | |
| TGFBR1 | 1512 | NM_004612.4 | AD | |
| TGFBR2 | 1704 | NM_003242.6 | AD |
Informations about the disease
Synonyms
- Alias: AR Cutis Laxa Type 1B
- Alias: Cutis laxa, AR, Lungenemphysem Typ
- Alias: Cutis laxa, AR, mit schwerer systemischer Beteiligung
- Alias: EFEMP2-Related Cutis Laxa
- Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
- Allelic: Developmental + epileptic encephalopathy 9 (ATP6V1A)
- Allelic: Doyne honeycomb degeneration of retina (EFEMP1)
- Allelic: Esophageal cancer, somatic (TGFBR2)
- Allelic: Infantile liver failure syndrome 2 (NBAS)
- Allelic: Macular degeneration, age-related, 3 (FBLN5)
- Allelic: Menkes disease (ATP7A)
- Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
- Allelic: Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
- Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
- Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
- Allelic: Spinal muscular atrophy, distal, XL 3 (ATP7A)
- Allelic: Supravalvar aortic stenosis (ELN)
- Aortic aneurysm, familial thoracic 10 (LOX)
- Arterial tortuosity syndrome (SLC2A10)
- Connective tissue disorder [panelapp Ehlers-Danlos panel] (EFEMP1)
- Cutis laxa, AD (ELN)
- Cutis laxa, AD 2 (FBLN5)
- Cutis laxa, AD 3 (ALDH18A1)
- Cutis laxa, AR, type IA (FBLN5)
- Cutis laxa, AR, type IB (EFEMP2)
- Cutis laxa, AR, type IC (LTBP4)
- Cutis laxa, AR, type IIA (ATP6V0A2)
- Cutis laxa, AR, type IIB (PYCR1)
- Cutis laxa, AR, type IIC (ATP6V1E1)
- Cutis laxa, AR, type IID (ATP6V1A)
- Cutis laxa, AR, type IIIA (ALDH18A1)
- Cutis laxa, AR, type IIIB (PYCR1)
- Geroderma osteodysplasticum (GORAB)
- Lenz-Majewski hyperostotic dwarfism (PTDSS1)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Loeys-Dietz syndrome 2 (TGFBR2)
- Loeys-Dietz syndrome 3 (SMAD3)
- Loeys-Dietz syndrome 4 (TGFB2)
- Loeys-Dietz syndrome 5 (TGFB3)
- Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
- Macrocephaly, alopecia, cutis laxa + scoliosis (RIN2)
- Neuronopathy, distal hereditary motor, type X (EMILIN1)
- Occipital horn syndrome (ATP7A)
- Short stature, optic nerve atrophy + Pelger-Huet anomaly (NBAS)
- Wrinkly skin syndrome (ATP6V0A2)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined