IllnessHand-Fuß-Genital-Syndrom; Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for Hand-foot-uterus syndrome comprising altogether 13 curated genes according to the clinical signs

HP1776

Number of genes

12 Accredited laboratory test

Examined sequence length

1,2 kb (Core-/Core-canditate-Genes)
45,1 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
HOXA13	1167	142959	NM_000522.5	AD
FGF10	627	602115	NM_004465.2	AD
FGFR2	2466	176943	NM_000141.5	AD
FGFR3	2421	134934	NM_000142.5	AD
FRAS1	12039	607830	NM_025074.7	AR
FREM2	9510	608945	NM_207361.6	AR
GRIP1	3231	604597	NM_021150.4	AR
RECQL4	3628	603780	NM_004260.4	AR
SALL1	3975	602218	NM_002968.3	AD
SALL4	3162	607343	NM_020436.5	AD
SF3B4	1275	605593	NM_005850.5	AD
TBX5	1557	601620	NM_000192.3	AD

Synonyms

Alias: Hand-foot-uterus syndrome
Allelic: Aplasia of lacrimal + salivary glands (FGF10)
Allelic: Baller-Gerold syndrome (RECQL4)
Allelic: Cryptophthalmos, unilateral or bilateral, isolated (FREM1)
Allelic: Guttmacher syndrome (HOXA13)
Allelic: Rothmund-Thomson syndrome, type 2 (RECQL4)
Allelic: Townes-Brocks branchiootorenal-like syndrome (SALL1)
Acrofacial dysostosis 1, Nager type (SF3B4)
Duane-radial ray syndrome (SALL4)
Fraser syndrome 2 (FREM1)
Fraser syndrome 3 (GRIP1)
Fraser syndrome [cryptophthalmos, syndactyly, respiratory + urogenital tract abnormal.] (FRAS1)
Hand-foot-uterus syndrome (HOXA13)
Holt-Oram syndrome (TBX5)
IVIC syndrome (SALL4)
LADD [Lacrimo-auriculo-dento-digital] syndrome (FGF10, FGFR2, FGFR3)
Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
RAPADILINO syndrome (RECQL4)
Townes-Brocks syndrome 1 (SALL1)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined