DK1-CDG

General Information (adopted from Orphanet):

Synonyms, Signs: DK1 DEFICIENCY
CDG1M
CDG syndrome type Im
CDG syndrome type 1m
dolichol kinase deficiency
CDGIm
Hypotonia and ichthyosis due to dolichol phosphate deficiency
Congenital disorder of glycosylation type Im
Congenital disorder of glycosylation type 1m
CDG Im
Carbohydrate deficient glycoprotein syndrome type Im
CDG-Im
Number of Symptoms 53
OrphanetNr: 91131
OMIM Id: 610768
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases
Inheritance: Autosomal recessive
22242004 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with other associated signs
 -Rare genetic disease
 -Rare skin disease
Congenital disorder of glycosylation with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Congenital disorder of glycosylation with skin involvement
 -Rare genetic disease
 -Rare skin disease
Disorder of multiple glycosylation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 24144945 IBIS 232 / 7739
2
 (HPO:0000653) Sparse eyelashes 17273964 IBIS 58 / 7739
3
 (HPO:0000535) Sparse and thin eyebrow 17273964 IBIS 76 / 7739
4
 (HPO:0005484) Postnatal microcephaly 17273964 IBIS 32 / 7739
5
 (HPO:0000639) Nystagmus 17273964 IBIS 555 / 7739
6
 (HPO:0000486) Strabismus 23890587 IBIS 576 / 7739
7
 (HPO:0011097) Epileptic spasms 23890587 IBIS 45 / 7739
8
 (HPO:0001250) Seizures Frequent [IBIS] 39% (n=18) 24144945 IBIS 1245 / 7739
9
 (HPO:0002445) Tetraplegia 17273964 IBIS 26 / 7739
10
 (HPO:0100543) Cognitive impairment 23890587 IBIS 230 / 7739
11
 (HPO:0001263) Global developmental delay Frequent [IBIS] 43% (n=14) 24144945 IBIS 853 / 7739
12
 (HPO:0002521) Hypsarrhythmia 17273964 IBIS 43 / 7739
13
 (HPO:0000960) Sacral dimple 24144945 IBIS 29 / 7739
14
 (HPO:0001776) Bilateral talipes equinovarus 24144945 IBIS 8 / 7739
15
 (HPO:0002910) Elevated hepatic transaminases Frequent [IBIS] 38% (n=18) 24144945 IBIS 158 / 7739
16
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 24144945 IBIS 467 / 7739
17
 (HPO:0004322) Short stature 22327749 IBIS 1232 / 7739
18
 (HPO:0001510) Growth delay 22327749 IBIS 295 / 7739
19
 (HPO:0001508) Failure to thrive 22327749 IBIS 454 / 7739
20
 (HPO:0001596) Alopecia 17273964 IBIS 162 / 7739
21
 (HPO:0000963) Thin skin 17273964 IBIS 96 / 7739
22
 (HPO:0000961) Cyanosis 24144945 IBIS 60 / 7739
23
 (HPO:0001019) Erythroderma Frequent [IBIS] 53% (n=17) 24144945 IBIS 24 / 7739
24
 (HPO:0008064) Ichthyosis Frequent [IBIS] 53% (n=17) 24144945 IBIS 108 / 7739
25
 (HPO:0000958) Dry skin Frequent [IBIS] 53% (n=17) 24144945 IBIS 152 / 7739
26
 (HPO:0004756) Ventricular tachycardia 22327749 IBIS 55 / 7739
27
 (HPO:0001644) Dilated cardiomyopathy Frequent [IBIS] 83% (n=18) 24144945 IBIS 141 / 7739
28
 (HPO:0001662) Bradycardia 24144945 IBIS 41 / 7739
29
 (HPO:0001663) Ventricular fibrillation 22327749 IBIS 35 / 7739
30
 (HPO:0011675) Arrhythmia 22327749 IBIS 226 / 7739
31
 (HPO:0001928) Abnormality of coagulation Very frequent [IBIS] 90% (n=10) 24144945 IBIS 44 / 7739
32
 (HPO:0001882) Leukopenia 22327749 IBIS 51 / 7739
33
 (HPO:0001875) Neutropenia 22327749 IBIS 83 / 7739
34
 (HPO:0001892) Abnormal bleeding 24144945 IBIS 85 / 7739
35
 (HPO:0001976) Reduced antithrombin III activity 22327749 IBIS 10 / 7739
36
 (HPO:0001935) Microcytic anemia 22327749 IBIS 32 / 7739
37
 (HPO:0003160) Abnormal isoelectric focusing of serum transferrin 22327749 IBIS 10 / 7739
38
 (HPO:0003236) Elevated serum creatine phosphokinase Occasional [IBIS] 22% (n=11) 24144945 IBIS 214 / 7739
39
 (HPO:0003074) Hyperglycemia 24144945 IBIS 37 / 7739
40
 (HPO:0001985) Hypoketotic hypoglycemia 17273964 IBIS 11 / 7739
41
 (HPO:0003642) Type I transferrin isoform profile 22327749 IBIS 16 / 7739
42
 (HPO:0002104) Apnea 24144945 IBIS 106 / 7739
43
 (HPO:0001324) Muscle weakness 22242004 IBIS 859 / 7739
44
 (HPO:0001252) Muscular hypotonia Frequent [IBIS] 39% (n=18) 24144945 IBIS 990 / 7739
45
 (HPO:0006829) Severe muscular hypotonia 22327749 IBIS 29 / 7739
46
 (OMIM) Minimal hair growth 17273964 IBIS 1 / 7739
47
 (OMIM) Birth weight normal 17273964 IBIS 14 / 7739
48
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 22327749 IBIS 949 / 7739
49
 (OMIM) Birth length normal 17273964 IBIS 15 / 7739
50
 (OMIM) Decreased lipid-linked oligosaccharides (LLO) 17273964 IBIS 1 / 7739
51
 (OMIM) Increased disialo- and asialotransferrin 22327749 IBIS 1 / 7739
52
 (OMIM) Normal birth head circumference 17273964 IBIS 2 / 7739
53
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 24144945 IBIS 187 / 7739

Associated genes:

DOLK;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DOLK rs137853109 pathogenic RCV000001190.2
DOLK rs137853110 pathogenic RCV000001191.2
DOLK rs387907030 pathogenic RCV000023835.2
DOLK rs587777137 pathogenic RCV000087064.3

Additional Information:

Clinical Description OMIM Kranz et al. (2007) described 2 consanguineous families, one German and one Turkish, each with 2 infants with dolichol kinase deficiency. In the cousins from the German family, weight, body length, and head circumference were within the normal ...
Molecular genetics OMIM In all 4 patients with dolichol kinase deficiency examined by them, Kranz et al. (2007) found homozygosity for 1 of 2 mutations in the DOLK gene (610746.0001; 610746.0002). The DOLK gene encodes dolichol kinase, the enzyme responsible for ...