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Congenital disorder of glycosylation type 1E(CDG1E)

MedGen UID:
324784
Concept ID:
C1837396
Disease or Syndrome
Synonyms: Carbohydrate-deficient glycoprotein syndrome type 1E; CDG 1E; CDG Ie; CDG1E; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Congenital disorder of glycosylation type 1e (725078006); Carbohydrate deficient glycoprotein syndrome type Ie (725078006); Dolichol-phosphate-mannose synthase 1 deficiency (725078006); DPM1-CDG - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation (725078006)
 
Gene (location): DPM1 (20q13.13)
OMIM®: 608799
Orphanet: ORPHA79322

Definition

Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579). [from OMIM]

Clinical features

Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Muscular dystrophy
MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Retinopathy
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Disease or Syndrome
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Prolonged partial thromboplastin time
MedGen UID:
66815
Concept ID:
C0240671
Finding
Creatine phosphokinase, elevated serum
MedGen UID:
69128
Concept ID:
C0241005
Finding
The caveolinopathies, a group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. Isolated hyperCKemia (i.e., elevated serum concentration of creatine kinase (CK) in the absence of signs of muscle disease) (HCK). Rippling muscle disease (RMD), characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Distal myopathy (DM), observed in one individual only Hypertrophic cardiomyopathy (HCM), without skeletal muscle manifestations.
Antithrombin III deficiency
MedGen UID:
75781
Concept ID:
C0272375
Disease or Syndrome
Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. The second category of AT-III deficiency has been termed type II (functional) deficiency. Affected individuals from these kindreds produce dysfunctional AT-III molecules; they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by Bock and Prochownik, 1987). The 2 categories of antithrombmin III deficiency have been classified further. Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). Type II (low functional but normal immunologic antithrombin) has been subdivided into subtype IIa (functional abnormalities affecting both the reactive site and the heparin-binding site of AT3); subtype IIb (functional abnormalities limited to the reactive site); and subtype IIc (functional abnormalities limited to the heparin-binding site) (summary by Lane et al., 1992).
Reduced protein C activity
MedGen UID:
96016
Concept ID:
C0398625
Disease or Syndrome
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
Abnormality of the macula
MedGen UID:
488928
Concept ID:
C0730362
Disease or Syndrome
Flat philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Disease or Syndrome
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Lower limb hyperreflexia
MedGen UID:
322973
Concept ID:
C1836696
Finding
Severe global developmental delay
MedGen UID:
332436
Concept ID:
C1837397
Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Flat occiput
MedGen UID:
332439
Concept ID:
C1837402
Finding
High, narrow palate
MedGen UID:
324787
Concept ID:
C1837404
Finding
Upper limb undergrowth
MedGen UID:
324789
Concept ID:
C1837406
Finding
Ankle contracture
MedGen UID:
332440
Concept ID:
C1837407
Finding
Type I transferrin isoform profile
MedGen UID:
324900
Concept ID:
C1837899
Finding
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Postnatal microcephaly
MedGen UID:
339779
Concept ID:
C1847514
Finding
Elevated hepatic transaminases
MedGen UID:
338525
Concept ID:
C1848701
Finding
Pontocerebellar atrophy
MedGen UID:
381261
Concept ID:
C1853766
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Reduced protein S activity
MedGen UID:
892328
Concept ID:
C4025284
Finding
An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.
Cortical visual impairment
MedGen UID:
890568
Concept ID:
C4048268
Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Congenital disorder of glycosylation type 1E in Orphanet.

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