IllnessCalcification, intracerebral; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Calcification, intracerebral, comprising 18 core candidate genes and altogether 38 curated genes according to the clinical signs
ID
VP7465
Number of genes
24
Accredited laboratory test
Examined sequence length
27,5 kb (Core-/Core-canditate-Genes)
42,5 kb (Extended panel: incl. additional genes)
42,5 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 |
---|---|---|---|---|
ACP5 | 978 | NM_001111034.3 | AR | |
AP1S2 | 474 | NM_003916.5 | XL | |
CTC1 | 3654 | NM_025099.6 | AR | |
CYP2U1 | 1635 | NM_183075.3 | AR | |
IFIH1 | 3078 | NM_022168.4 | AD | |
JAM3 | 780 | NM_001205329.2 | AR | |
OCLN | 1569 | NM_002538.4 | AR | |
PDGFB | 726 | NM_002608.4 | AD | |
PDGFRB | 3321 | NM_002609.4 | AD | |
RNASEH2A | 900 | NM_006397.3 | AR | |
RNASEH2B | 939 | NM_024570.4 | AR | |
RNASEH2C | 495 | NM_032193.4 | AR | |
SAMHD1 | 1881 | NM_015474.4 | AR | |
SLC20A2 | 1959 | NM_001257180.2 | AD | |
TINF2 | 1356 | NM_001099274.3 | AD | |
TREM2 | 660 | NM_001271821.2 | AR | |
TREX1 | 945 | NM_033629.6 | AD, AR | |
XPR1 | 2106 | NM_001135669.2 | AD | |
ADAR | 2796 | NM_001111.5 | AD, AR | |
COL4A1 | 5010 | NM_001845.6 | AD | |
FARSB | 1787 | NM_005687.5 | AR | |
MYORG | 2146 | NM_020702.5 | AR | |
NRROS | 2081 | NM_198565.3 | AR | |
USP18 | 1129 | NM_017414.4 | AR |
Informations about the disease
Clinical Comment
Heterogenous group of diseases: Intracranial calcifications are observed within the brain parenchyma or vasculature. The prevalence ranges from 1% in young individuals to up to 20% in elderly. However, brain calcifications were reported in up to 72% in autopsy cases with microscopic calcifications being the most common. Computed Tomography scanning has largely contributed in the accurate detection, localization and classification of intracranial calcifications.
Synonyms
- Alias: Basalganglien-Kalzifikation
- Alias: Calzifizierung, intrazerebrale
- Alias: Kalzifikation, intrazerebrale
- Alias: Kalzifikation, zerebrale
- Alias: Kalzifizierung, intrazerebrale
- Alias: Morbus Fahr
- Allelic: De Sanctis-Cacchione syndrome (ERCC6)
- Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
- Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1)
- Allelic: Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
- Allelic: Kenny-Caffey syndrome, type 1 (TBCE)
- Allelic: Lung cancer, susceptibility to (ERCC6)
- Allelic: Lymphangioleiomyomatosis (TSC1)
- Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
- Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
- Allelic: Premature aging syndrome, Penttinen type (PDGFRB)
- Allelic: Premature ovarian failure 11 (ERCC6)
- Allelic: Singleton-Merten syndrome 1 (IFIH1)
- Allelic: Spastic paraplegia 56, AR (CYP2U1)
- Allelic: Spondyloenchondrodysplasia with immune dysregulation (ACP5)
- Allelic: UV-sensitive syndrome 1 (ERCC6)
- Allelic: UV-sensitive syndrome 2 (ERCC8)
- ACTH-independent macronodular adrenal hyperplasia (GNAS)
- Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
- Aicardi-Goutieres syndrome 2 (RNASEH2B)
- Aicardi-Goutieres syndrome 3 (RNASEH2C)
- Aicardi-Goutieres syndrome 4 (RNASEH2A)
- Aicardi-Goutieres syndrome 5 (SAMHD1)
- Aicardi-Goutieres syndrome 6 (ADAR)
- Aicardi-Goutieres syndrome 7 (IFIH1)
- Basal ganglia calcification, idiopathic, 1 (SLC20A2)
- Basal ganglia calcification, idiopathic, 4 (PDGFRB)
- Basal ganglia calcification, idiopathic, 5 (PDGFB)
- Basal ganglia calcification, idiopathic, 6 (XPR1)
- Basal ganglia calcification, idiopathic, 7, AR (MYORG syn. KIAA1161)
- Brain small vessel disease with/-out ocular anomalies (COL4A1)
- Cerebrooculofacioskeletal syndrome 1 (ERCC6)
- Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
- Cockayne syndrome, type A (ERCC8)
- Cockayne syndrome, type B (ERCC6)
- Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
- Focal cortical dysplasia, type II, somatic (TSC1)
- Focal cortical dysplasia, type II, somatic (TSC2)
- HARP syndrome (PANK2)
- Hemorrhagic destruction of the brain, subependymal calcification + cataracts (JAM3)
- Hyperparathyroidism 4 (GCM2)
- Hyperparathyroidism, neonatal (CASR)
- Hypocalcemia, AD (CASR)
- Hypocalcemia, AD 2 (GNA11)
- Hypocalcemia, AD, with Bartter syndrome (CASR)
- Hypocalciuric hypercalcemia, type I (CASR)
- Hypocalciuric hypercalcemia, type II (GNA11)
- Hypoparathyroidism, familial isolated 1 (PTH)
- Hypoparathyroidism, familial isolated 2 (GCM2)
- Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
- Immunodeficiency 38 (ISG15)
- McCune-Albright syndrome, somatic, mosaic (GNAS)
- Mental retardation, XL syndromic 5 (AP1S2)
- Neurodegeneration with brain iron accumulation 1 (PANK2)
- Osseous heteroplasia, progressive (GNAS)
- Panhypopituitarism, XL (SOX3)
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
- Pseudo-TORCH syndrome 1 (OCLN)
- Pseudo-TORCH syndrome 2 (USP18)
- Pseudohypoparathyroidism Ia (GNAS)
- Pseudohypoparathyroidism Ib (GNAS)
- Pseudohypoparathyroidism Ic (GNAS)
- Pseudopseudohypoparathyroidism (GNAS)
- Rajab interstitial lung disease with brain calcifications 1 (FARSB)
- Rajab interstitial lung disease with brain calcifications 2 (FARSA)
- Seizures, early-onset, with neurodegeneration + brain calcification (NRROS)
- Tuberous sclerosis-1 (TSC1)
- Tuberous sclerosis-2 (TSC2)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
M31.1
Bioinformatics and clinical interpretation
No text defined