IllnessRenal agenesis/dysplasia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Renal agenesis/dysplasia comprising 7 guideline-curated core genes and altogether 26 curated genes according to the clinical signs

NP0810

Number of genes

15 Accredited laboratory test

Examined sequence length

17,2 kb (Core-/Core-canditate-Genes)
29,9 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
DSTYK	2790	612666	AD
EYA1	1779	601653	AD
GATA3	1335	131320	AD
HNF1B	1674	189907	AD
ITGA8	3192	604063	AD
PAX2	1254	167409	AD
RET	3345	164761	AD
TBX18	1824	604613	AD
BICC1	2925	614295	AD
BMP4	1227	112262	AD
DHCR7	1428	602858	AR
FGF20	636	605558	AR
NEK8	2079	609799	AR
NRIP1	3477	602490	AD
UPK3A	864	611559	XLR

Informations about the disease

Clinical Comment

Form of renal tract malformation with complete absence of development of 1-2 kidneys accompanied by absent ureter(s)

ORPHA:1848 Nierenagenesie, bilaterale ORPHA:93100 Nierenagenesie, unilaterale

Synonyms

Alias: Extreme form of CAKUT
Alias: Renal agenesis, kidney hypoplasia
Allelic: Anterior segment anomalies with/-out cataract (EYA1)
Allelic: Bone marrow failure [panelapp] (EXOC3L2)
Allelic: Branchiootic syndrome 1 (EYA1)
Allelic: Central hypoventilation syndrome, congenital (RET)
Allelic: Dandy-Walker malformation [panelapp] (EXOC3L2)
Allelic: Deafness, AD 23 (SIX1)
Allelic: Deafness, AD 80 (GREB1L)
Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
Allelic: Manitoba oculotrichoanal syndrome (FREM1)
Allelic: Medullary thyroid carcinoma (RET)
Allelic: Microphthalmia, syndromic 6 (BMP4)
Allelic: Multiple endocrine neoplasia IIa + IIB (RET)
Allelic: Nephronophthisis 9 (NEK8)
Allelic: Orofacial cleft 11 (BMP4)
Allelic: Otofaciocervical syndrome (EYA1)
Allelic: Pheochromocytoma (RET)
Allelic: Renal cell carcinoma (HNF1B)
Allelic: Spastic paraplegia 23 (DSTYK)
Allelic: Trigonocephaly 2 (FREM1)
Beaulieu-Boycott-Innes/microceph., MR, distinct face, cardiac + genitourinary malfrom. s. (THOC6)
Bifid nose with/-out anorectal + renal anomalies (FREM1)
Branchiootic syndrome 3 (SIX1)
Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
Branchiootorenal syndrome 2 (SIX5)
Congenital anomalies kidney + urinary tract syndr. +/- hear loss, abnormal ears, devel. delay (PBX1)
Congenital anomalies of kidney + urinary tract 1 (DSTYK)
Congenital anomalies of kidney + urinary tract 2 (TBX18)
Congenital anomalies of kidney + urinary tract 3 (NRIP)
Hypogonadotropic hypogonadism 1 with/-out anosmia, Kallmann syndrome 1 (ANOS1)
Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
Microcephaly, facial dysmorphism, renal agenesis, ambiguous genitalia syndrome (CTU2)
Multinucleated neurons, anhydramnios, renal dysplasia, cereb, hypoplasia, hydranencephaly (CEP55)
Papillorenal syndrome (PAX2)
Renal cysts + diabetes syndrome (HNF1B)
Renal dysplasia + Stickler syndrome (BMP4)
Renal dysplasia [panelapp] (EXOC3L2)
Renal dysplasia, cystic, susceptibility to (BICC1)
Renal hypodysplasia/aplasia 1 (ITGA8)
Renal hypodysplasia/aplasia 2 (FGF20)
Renal hypodysplasia/aplasia 3 (GREB1L)
Renal-hepatic-pancreatic dysplasia 2 (NEK8)
Smith-Lemli-Opitz syndrome (DHCR7)
Townes-Brocks branchiootorenal-like syndrome (SALL1)
Townes-Brocks syndrome 1, Renal-Ear-Aanal-Radial [REAR] syndrome (SALL1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q61.4

Bioinformatics and clinical interpretation

No text defined