Deutsch
IllnessHuppke-Brendel syndrome; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Huppke-Brendel syndrome comprising 10 curated genes according to the clinical signs
ID
HP1772
Number of genes
10
Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
17,7 kb (Extended panel: incl. additional genes)
17,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| SLC33A1 | 1650 | NM_004733.4 | AR | |
| AP1S1 | 477 | NM_001283.5 | AR | |
| ATP7A | 4503 | NM_000052.7 | XLR | |
| ATP7B | 4398 | NM_000053.4 | AR | |
| CCDC115 | 645 | NM_032357.4 | AR | |
| HYCC1 | 1566 | NM_032581.4 | AR | |
| RMND1 | 1350 | NM_017909.4 | AR | |
| SUCLA2 | 1392 | NM_003850.3 | AR | |
| SUCLG1 | 1041 | NM_003849.4 | AR | |
| TMEM199 | 633 | NM_152464.3 | AR |
Informations about the disease
Synonyms
- Alias: Congenital cataract-hearing loss-severe developmental delay syndrome
- Allelic: Occipital horn syndrome (ATP7A)
- Allelic: Spastic paraplegia 42, AD (SLC33A1)
- Allelic: Spinal muscular atrophy, distal, XL 3 (ATP7A)
- Combined oxidative phosphorylation deficiency 11 (RMND1)
- Congenital cataracts, hearing loss + neurodegeneration (SLC33A1)
- Congenital disorder of glycosylation, type IIo (CCDC119)
- Congenital disorder of glycosylation, type IIp (TMEM199)
- Leukodystrophy, hypomyelinating, 5 (FAM126A)
- MEDNIK syndrome (AP1S1)
- Menkes disease (ATP7A)
- Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma (AP1S1)
- Mitochondrial DNA depletion s. 5 [encephalomyopathic with/-out methylmalonic aciduria] (SUCLA2)
- Mitochondrial DNA depletion s. 9 [encephalomyopathic type with methylmalonic aciduria] (SUCLG1)
- Wilson disease (ATP7B)
Heredity, heredity patterns etc.
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined