Klinische FragestellungHypophosphatämie/Rachitis, Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für Hypophosphatämie/ Rachitis mit 20 Leitlinien-kuratierten sowie insgesamt 23 kuratierten Genen
35,9 kb (Erweitertes Panel: inkl. additional genes)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
CLCN5 | 2241 | NM_000084.5 | XLR | |
CTNS | 1203 | NM_001031681.3 | AR | |
CYP27B1 | 1527 | NM_000785.4 | AR | |
CYP2R1 | 1506 | NM_024514.5 | AR | |
CYP3A4 | 1512 | NM_017460.6 | AD | |
DMP1 | 1542 | NM_004407.4 | AR | |
ENPP1 | 2778 | NM_006208.3 | AR | |
FAM20C | 1755 | NM_020223.4 | AR | |
FGF23 | 756 | NM_020638.3 | AD | |
HNRNPC | 997 | NM_001077442.2 | AR | |
PHEX | 2250 | NM_000444.6 | XL | |
SLC34A1 | 1920 | NM_003052.5 | AD | |
SLC34A3 | 1800 | NM_080877.2 | AR | |
VDR | 1284 | NM_001017535.2 | AR | |
ALPL | 1575 | NM_000478.6 | AR, AD | |
FAH | 1260 | NM_000137.4 | AR | |
FGFR1 | 2469 | NM_023110.3 | AD | |
HRAS | 570 | NM_005343.4 | n.k. | |
KL | 3039 | NM_004795.4 | AR | |
KRAS | 567 | NM_004985.5 | AD | |
NRAS | 570 | NM_002524.5 | AD | |
OCRL | 2706 | NM_000276.4 | XLR |
Infos zur Erkrankung
In den meisten Fällen beginnt die Symptomatik der hereditären Hypophosphatämie/Rachitis in der frühen Kindheit. Diese Merkmale der Störung variieren stark, selbst bei betroffenen Mitgliedern derselben Familie. Mild betroffene Personen zeigen nur Hypophosphatämie. Schwerer betroffene Kinder wachsen langsamer und können Knochenanomalien (O-Bein, Genu valgum, Kraniosynostose, Zahnanomalien) entwickeln, bei Erwachsenen entsteht Osteomalazie. Die häufigste Form ist die X-chromosomal-dominante hypophosphatämische Rachitis (PHEX Gen mutiert); X-chromosomal-rezessive (CLCN5), autosomal-dominante (FGF23, SLC34A1) und rezessive Formen (DMP1, ENPP1) sind viel seltener. Eine weitere seltene Störung ist die hereditäre Hypophosphatämie/Rachitis mit Hyperkalziurie (SLC34A3 Gen mutiert). DNA-diagnostische Ausbeuten für Hypophosphatämie/Rachitis sind derzeit nicht bekannt; PHEX Mutationen betreffen in bis zu >40% indels). Die klinische Diagnose kann durch ein negatives molekulargenetisches Ergebnis keinesfalls ausgeschlossen werden.
Referenzen: https://www.ncbi.nlm.nih.gov/books/NBK83985/
https://www.ncbi.nlm.nih.gov/books/NBK274564/
https://www.ncbi.nlm.nih.gov/books/NBK1480/
https://www.ncbi.nlm.nih.gov/books/NBK99494/
- Alias: Dominant hypophosphatemia with nephrolithiasis or osteoporosis, included
- Alias: Hereditary hypophosphatemic rickets with hypercalciuria, included
- Alias: Hypocalcemic vitamin D-resistant rickets, included
- Allelic: Arterial calcification, generalized, of infancy, 1 (ENPP1)
- Allelic: Cole disease (ENPP1)
- Allelic: Cystinosis, ocular nonnephropathic (CTNS)
- Allelic: Diabetes mellitus, non-insulin-dependent, susceptibility to (ENPP1)
- Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
- Allelic: Fanconi renotubular syndrome 2 (PHEX)
- Allelic: Hartsfield syndrome (FDGFR1)
- Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
- Allelic: Jackson-Weiss syndrome (FGFR1)
- Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
- Allelic: Nephrolithiasis, type I (CLCN5)
- Allelic: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (PHEX)
- Allelic: Obesity, susceptibility to (ENPP1)
- Allelic: Osseous heteroplasia, progressive (GNAS)
- Allelic: Pfeiffer syndrome (FGFR1)
- Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
- Allelic: Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
- Allelic: Pseudohypoparathyroidism Ia (GNAS)
- Allelic: Pseudohypoparathyroidism Ib (GNAS)
- Allelic: Pseudohypoparathyroidism Ic (GNAS)
- Allelic: Pseudopseudohypoparathyroidism (GNAS)
- Allelic: Trigonocephaly 1 (FGFR1)
- Allelic: Tumoral calcinosis, hyperphosphatemic, familial, 2 (FGF23)
- ACTH-independent macronodular adrenal hyperplasia (GNAS)
- Cystinosis, atypical nephropathic (CTNS)
- Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
- Cystinosis, nephropathic (CTNS)
- Dent disease (CLCN5)
- Dent disease 2 (OCRL)
- Hypercalcemia, infantile, 2 (PHEX)
- Hypophosphatasia, adult (ALPL)
- Hypophosphatasia, childhood (ALPL)
- Hypophosphatasia, infantile (ALPL)
- Hypophosphatemic rickets (CLCN5)
- Hypophosphatemic rickets with hypercalciuria (SLC34A3)
- Hypophosphatemic rickets, AD (FGF23)
- Hypophosphatemic rickets, AR (DMP1)
- Hypophosphatemic rickets, AR, 2 (ENPP1)
- Hypophosphatemic rickets, XLD (PHEX)
- Lowe syndrome (OCRL)
- Odontohypophosphatasia (ALPL)
- Osteoglophonic dysplasia (FGFR1)
- Raine syndrome/osteosclerotic bone dysplasia, lethal (FAM20C)
- Rickets due to defect in vitamin D 25-hydroxylation (CYP2R1)
- Rickets, vitamin D-resistant, type IIA (VDR)
- Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS, KRAS, NRAS)
- Tumoral calcinosis, hyperphosphatemic, familial, 3 (KL)
- Tyrosinemia, type I (FAH)
- Vitamin D-dependent rickets type 2B (HNRNPC)
- Vitamin D-dependent rickets, type 3 (CYP3A4)
- Vitamin D-dependent rickets, type I (CYP27B1)
- AD
- AR
- XL
- XLR
- n.k.
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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