Deutsch
IllnessHypoparathyreoidismus, familiär; Differentialdiagnose
Summary
Short information
Comprehensive differential diagnostic panel for familial Hypoparathyroidism comprising 4 guideline-curated and altogether 8 curated genes
ID
HP0033
Number of loci
| Loci type | Count |
|---|---|
| Gen | 9 |
Examined sequence length
13,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| AIRE | 1638 | NM_000383.4 | AD, AR | |
| CASR | 3237 | NM_000388.4 | AD, AR | |
| GATA3 | 1335 | NM_001002295.2 | AD | |
| GCM2 | 1521 | NM_004752.4 | AD, AR | |
| GNA11 | 1080 | NM_002067.5 | AD | |
| GNAS | 1185 | NM_000516.7; NM_016592.3; NM_080425.3 | AD | |
| PRKAR1A | 1146 | NM_002734.5 | AD | |
| PTH | 348 | NM_000315.4 | AD, AR | |
| TBCE | 1584 | NM_003193.5 | AR |
Informations about the disease
Clinical Comment
Heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone, without other endocrine disorders or developmental defects
Synonyms
- Alias: Hyperparathyroidism, neonatal
- Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
- Allelic: Conotruncal anomaly face syndrome (TBX1)
- Allelic: DiGeorge syndrome (TBX1)
- Allelic: Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
- Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
- Allelic: Hyperparathyroidism 4 (GCM2)
- Allelic: Hypocalcemia, AD (CASR)
- Allelic: Hypocalcemia, AD, with Bartter syndrome (CASR)
- Allelic: Hypocalciuric hypercalcemia, type I (CASR)
- Allelic: Hypocalciuric hypercalcemia, type II (GNA11)
- Allelic: Kenny-Caffey syndrome, type 1 (TBCE)
- Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
- Allelic: Osseous heteroplasia, progressive (GNAS)
- Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
- Allelic: Tetralogy of Fallot (TBX1)
- Allelic: Velocardiofacial syndrome (TBX1)
- Autoimmune polyendocrinopathy syndrome , type I, with/-out reversible metaphyseal dysplasia (AIRE)
- Hyperparathyroidism, neonatal (CASR)
- Hypocalcemia, AD 2 (GNA11)
- Hypoparathyroidism, familial isolated 1 (PTH)
- Hypoparathyroidism, familial isolated 2 (GCM2)
- Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
- Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
- Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
- Pseudohypoparathyroidism, type IB (STX16)
- Pseudopseudohypoparathyroidism (GNAS)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined