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ALG11-congenital disorder of glycosylation(CDG1P)

MedGen UID:
462263
Concept ID:
C3150913
Disease or Syndrome
Synonyms: ALG11-CDG; ALG11-CDG (CDG-Ip); Congenital disorder of glycosylation type 1P; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
SNOMED CT: Congenital disorder of glycosylation type Ip (733085004); Asparagine-linked glycosylation 11 congenital disorder of glycosylation (733085004); Carbohydrate deficient glycoprotein syndrome type Ip (733085004); ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation (733085004); Congenital disorder of glycosylation type 1p (733085004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ALG11 (13q14.3)
 
Monarch Initiative: MONDO:0013349
OMIM®: 613661
Orphanet: ORPHA280071

Definition

A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3). [from SNOMEDCT_US]

Clinical features

From HPO
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Opisthotonus
MedGen UID:
56246
Concept ID:
C0151818
Sign or Symptom
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
EEG with generalized epileptiform discharges
MedGen UID:
869058
Concept ID:
C4023476
Finding
EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Temperature instability
MedGen UID:
329973
Concept ID:
C1820737
Finding
Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.
Type I transferrin isoform profile
MedGen UID:
324900
Concept ID:
C1837899
Finding
Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.
Hyperammonemia
MedGen UID:
1802066
Concept ID:
C5574662
Laboratory or Test Result
An increased concentration of ammonia in the blood.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Inversion of nipple
MedGen UID:
82844
Concept ID:
C0269269
Anatomical Abnormality
The presence of nipples that instead of pointing outward are retracted inwards.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for ALG11-congenital disorder of glycosylation in Orphanet.

Recent clinical studies

Etiology

Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR
Pediatr Neurol 2019 May;94:64-69. Epub 2018 Dec 24 doi: 10.1016/j.pediatrneurol.2018.12.009. PMID: 30770273Free PMC Article

Diagnosis

Arai Y, Okanishi T, Kanai S, Okazaki T, Koshimizu E, Miyatake S, Maeoka Y, Fujimoto A, Matsumoto N, Maegaki Y
Brain Dev 2022 Nov;44(10):732-736. Epub 2022 Jul 27 doi: 10.1016/j.braindev.2022.07.005. PMID: 35907674
Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR
Pediatr Neurol 2019 May;94:64-69. Epub 2018 Dec 24 doi: 10.1016/j.pediatrneurol.2018.12.009. PMID: 30770273Free PMC Article
Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA 2nd
Am J Med Genet A 2019 Mar;179(3):498-502. Epub 2019 Jan 24 doi: 10.1002/ajmg.a.61046. PMID: 30676690Free PMC Article

Prognosis

Arai Y, Okanishi T, Kanai S, Okazaki T, Koshimizu E, Miyatake S, Maeoka Y, Fujimoto A, Matsumoto N, Maegaki Y
Brain Dev 2022 Nov;44(10):732-736. Epub 2022 Jul 27 doi: 10.1016/j.braindev.2022.07.005. PMID: 35907674

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