TMEM165-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: CDG2K
CDGIIk
CDG IIk
CDG-IIk
CDG syndrome type 2k
CDG syndrome type IIk
Number of Symptoms 38
OrphanetNr: 314667
OMIM Id: 614727
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with hepatic involvement
 -Rare genetic disease
 -Rare hepatic disease
Congenital disorder of glycosylation with neurological involvement
 -Rare genetic disease
 -Rare neurologic disease
Congenital disorder of glycosylation-related bone disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Disorder of protein N-glycosylation
 -Rare genetic disease
Primary bone dysplasia with decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000705) Amelogenesis imperfecta rare [HPO:skoehler] 25 / 7739
2
 (HPO:0000272) Malar flattening rare [HPO:skoehler] 277 / 7739
3
 (HPO:0005484) Postnatal microcephaly 32 / 7739
4
 (HPO:0011800) Midface retrusion rare [HPO:skoehler] 221 / 7739
5
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
6
 (HPO:0000369) Low-set ears 372 / 7739
7
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
8
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0002751) Kyphoscoliosis 131 / 7739
11
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
12
 (HPO:0100252) Diaphyseal dysplasia 4 / 7739
13
 (HPO:0008802) Hypoplasia of the femoral head 6 / 7739
14
 (HPO:0001388) Joint laxity 117 / 7739
15
 (HPO:0000939) Osteoporosis 129 / 7739
16
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
17
 (HPO:0002240) Hepatomegaly 467 / 7739
18
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
19
 (HPO:0001508) Failure to thrive 454 / 7739
20
 (HPO:0001510) Growth delay 295 / 7739
21
 (HPO:0004322) Short stature 1232 / 7739
22
 (HPO:0001873) Thrombocytopenia 224 / 7739
23
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
24
 (HPO:0001955) Unexplained fevers rare [HPO:skoehler] 7 / 7739
25
 (HPO:0001252) Muscular hypotonia 990 / 7739
26
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
27
 (HPO:0001324) Muscle weakness 859 / 7739
28
 (HPO:0010547) Muscle flaccidity 466 / 7739
29
 (HPO:0003812) Phenotypic variability 129 / 7739
30
 (OMIM) Dysplastic fourth metatarsals (1 patient) 1 / 7739
31
 (OMIM) Abnormal fat distribution 1 / 7739
32
 (OMIM) N-glycosylation defect 1 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (OMIM) Eye abnormalities 1 / 7739
35
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
36
 (OMIM) Dysplastic vertebrae 1 / 7739
37
 (OMIM) Dysplastic ribs (1 patient) 1 / 7739
38
 (OMIM) Dysplastic fourth metacarpals (1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CDG2K is an autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin ...
Clinical Description OMIM Foulquier et al. (2012) reported 5 patients from 4 families with CDG2K. The first family contained 2 affected sibs, born of Georgian Jewish parents. The 19-year-old boy had psychomotor retardation and severe growth retardation. He also had midface ...
Molecular genetics OMIM In 5 patients from 4 families with CDG2K, Foulquier et al. (2012) identified homozygous or compound heterozygous mutations in the TMEM165 gene (614726.0001-614726.0004). The mutations were found by autozygosity mapping followed by gene expression profiling. Silencing of the ...