Isolated glycerol kinase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GLYCEROL KINASE DEFICIENCY
GK DEFICIENCY
GK1 DEFICIENCY
GKD
Hyperglycerolemia
Number of Symptoms 54
OrphanetNr: 408
OMIM Id: 307030
ICD-10: E74.8
UMLs:
MeSH: C538138
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Glycerol kinase deficiency
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism occasional [HPO:skoehler] 347 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0002714) Downturned corners of mouth 98 / 7739
4
 (HPO:0002007) Frontal bossing 366 / 7739
5
 (HPO:0001999) Abnormal facial shape occasional [HPO:skoehler] 169 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0000486) Strabismus 576 / 7739
8
 (HPO:0000369) Low-set ears 372 / 7739
9
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
10
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
11
 (HPO:0001254) Lethargy 104 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
14
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0001259) Coma 65 / 7739
17
 (HPO:0008207) Primary adrenal insufficiency Very frequent [Orphanet] 26 / 7739
18
 (HPO:0008182) Adrenocortical hypoplasia 4 / 7739
19
 (HPO:0000846) Adrenal insufficiency 24 / 7739
20
 (HPO:0002756) Pathologic fracture 30 / 7739
21
 (HPO:0000939) Osteoporosis 129 / 7739
22
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
23
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
24
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
25
 (HPO:0002572) Episodic vomiting 12 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0001518) Small for gestational age 107 / 7739
28
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
29
 (HPO:0001943) Hypoglycemia 131 / 7739
30
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
31
 (HPO:0001942) Metabolic acidosis 81 / 7739
32
 (HPO:0003220) Abnormality of chromosome stability Occasional [Orphanet] 98 / 7739
33
 (HPO:0001993) Ketoacidosis 17 / 7739
34
 (HPO:0003560) Muscular dystrophy 88 / 7739
35
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
36
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
37
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
38
 (OMIM) 'Hourglass' midface 1 / 7739
39
 (OMIM) Mental retardation may occur 1 / 7739
40
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
41
 (OMIM) Increased urinary glycerol 2 / 7739
42
 (OMIM) Adrenal insufficiency, congenital (300200) in 'complex' form 1 / 7739
43
 (OMIM) Lethargy or loss of consciousness during illness or fasting 1 / 7739
44
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
45
 (OMIM) Cryptorchidism may occur 1 / 7739
46
 (OMIM) Increased serum glycerol 1 / 7739
47
 (OMIM) Duchenne muscular dystrophy (DMD, 310200) in 'complex' form 1 / 7739
48
 (OMIM) Pseudohypertriglyceridemia in adult form 1 / 7739
49
 (OMIM) Decreased glycerol kinase activity 1 / 7739
50
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
51
 (OMIM) [DEL]Mild facial dysmorphism may occur 2 / 7739
52
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
53
 (OMIM) Rounded palpebral fissures 1 / 7739
54
 (OMIM) Wide, flattened earlobes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms ...
Clinical Description OMIM In a 70-year-old mildly diabetic man, Rose and Haines (1978) found an elevated level of serum-free glycerol (about 75 mg per dl) and excretion of free glycerol in the urine (about 13 gm per 25 hr). Homogenates of ...
Molecular genetics OMIM In 4 patients with isolated glycerol kinase deficiency, Walker et al. (1996) identified 3 different mutations in the GK gene (300474.0001-300474.0003). The authors noted widely differing phenotypes and suggested ascertainment bias; metabolic or environmental stress as a precipitating ...