IllnessChondrodysplasia punctata, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Chondrodysplasia punctata comprising 8 or 18 curated genes according to the clinical signs

CP7654

Number of genes

10 Accredited laboratory test

Examined sequence length

8,3 kb (Core-/Core-canditate-Genes)
14,3 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
AGPS	1977	603051	AR
ARSL	1780	300180	XLR
EBP	693	300205	XL
GNPAT	2043	602744	AR
MGP	312	154870	AR
PEX7	972	601757	AR
VKORC1	492	608547	AD
DHCR7	1428	602858	AR
NSDHL	1122	300275	XL
VPS35L	3462	618981	AD

Informations about the disease

Clinical Comment

Group of disorders

Synonyms

Alias: Arylsulfatase E Deficiency (CDPX1)
Alias: Brachytelephalangic chondrodysplasia punctata, BCDP
Alias: Chondrodysplasia punctata, CDP
Alias: Chondrodysplasie p.
Allelic: Cataracts, spastic paraparesis + speech delay (FAR1)
Allelic: Pelger-Huet anomaly (LBR)
Allelic: Peroxisome biogenesis disorder 2A, Zellweger (PEX5)
Allelic: Peroxisome biogenesis disorder 2B (PEX5)
Allelic: Reynolds syndrome (LBR)
Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
CK syndrome: Mental retardation, XL, thin habitus, cortical malformation (NSDHL)
Chondrodysplasia punctata, XLD (EBP)
Chondrodysplasia punctata, rhizomelic, type 2 (GNPAT)
Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome (NSDHL)
Conradi-Hünermann syndrome, Happle syndrome (EBP)
Desmosterolosis (DHCR25)
Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
Greenberg skeletal dysplasia (LBR)
Keutel syndrome: Pulm. stenoses, brachytelephalangy, deafness, abnormal cartilage ossification (MGP)
Lathosterolosis (SC5D)
Lipodystrophy, congenital generalized, type 1 (AGPS)
Male EBP disorder with neurologic defects [MEND] syndrome (EBP)
Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
Pelger-Huet anomaly with mild skeletal anomalies (LBR)
Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
Pulmonic stenoses, brachytelephalangy, deaf, abnormal cartilage ossification/calcification (MGP)
Refsum peroxisomal disease 9B (PEX7)
Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
Rhizomelic chondrodysplasia punctata, type 4 (FAR1)
Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
Ritscher-Schinzel syndrome 3 (VPS35L)
Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
XLD chondrodysplasia punctata as phenocopy of warfarin embryopathy (VKORC1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q77.3

Bioinformatics and clinical interpretation

No text defined