Rhizomelic chondrodysplasia punctata type 2

General Information (adopted from Orphanet):

Synonyms, Signs: DHAPAT DEFICIENCY
PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY
GNPAT DEFICIENCY
RCDP2
Number of Symptoms 31
OrphanetNr: 309796
OMIM Id: 222765
ICD-10: Q77.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rhizomelic chondrodysplasia punctata
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000431) Wide nasal bridge 290 / 7739
5
 (HPO:0000463) Anteverted nares 305 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0000348) High forehead 157 / 7739
8
 (HPO:0000239) Large fontanelles 135 / 7739
9
 (HPO:0000518) Cataract 454 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0003097) Short femur 13 / 7739
12
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
13
 (HPO:0005792) Short humerus 34 / 7739
14
 (HPO:0002832) Calcific stippling 5 / 7739
15
 (HPO:0000938) Osteopenia 138 / 7739
16
 (HPO:0002650) Scoliosis 705 / 7739
17
 (HPO:0008838) Stippled calcification proximal humeral epiphyses 1 / 7739
18
 (HPO:0008905) Rhizomelia 85 / 7739
19
 (HPO:0001371) Flexion contracture 220 / 7739
20
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
21
 (HPO:0001508) Failure to thrive 454 / 7739
22
 (HPO:0003498) Disproportionate short stature 28 / 7739
23
 (HPO:0001324) Muscle weakness 859 / 7739
24
 (HPO:0001252) Muscular hypotonia 990 / 7739
25
 (HPO:0010547) Muscle flaccidity 466 / 7739
26
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
27
 (OMIM) Normal phytanic acid 1 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (OMIM) Rhizomelic shortening 12 / 7739
30
 (OMIM) Decreased dihydroxyacetonephosphate acyltransferase (DHAP-AT) activity 1 / 7739
31
 (OMIM) Decreased plasmalogen 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wanders et al. (1992) described a patient showing all the clinical features of rhizomelic chondrodysplasia punctata (see RCDP1, 215100) but lacking the classic tetrad of biochemical abnormalities: impairment of plasmalogen biosynthesis, elevated phytanic acid, deficiency of alkyl-dihydroxyacetonephosphate synthase, ...
Molecular genetics OMIM Ofman et al. (1998) identified homozygosity for 5 different mutations in the GNPAT gene (602744.0001-602744.0005) in 8 patients with RCDP2, including 3 sibs (602744.0001), 1 of whom was originally reported by Clayton et al. (1994), and the patient ...