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ALG9 congenital disorder of glycosylation(CDG1L)

MedGen UID:
443955
Concept ID:
C2931006
Disease or Syndrome
Synonyms: ALG9-CDG; ALG9-CDG (CDG-IL); CDG 1L; CDG Il; CDG1L; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
SNOMED CT: Asparagine-linked glycosylation 9 congenital disorder of glycosylation (720978005); ALG9 congenital disorder of glycosylation (720978005); Carbohydrate deficient glycoprotein syndrome type IL (720978005); Congenital disorder of glycosylation type 1L (720978005); Congenital disorder of glycosylation type IL (720978005); Mannosyltransferase 7-9 deficiency (720978005); ALG9-CDG - asparagine-linked glycosylation 9 congenital disorder of glycosylation (720978005)
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): ALG9 (11q23.1)
 
Monarch Initiative: MONDO:0012117
OMIM®: 608776
Orphanet: ORPHA79328

Definition

Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065). [from OMIM]

Clinical features

From HPO
Polycystic kidney disease
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Abnormal cardiac septum morphology
MedGen UID:
6752
Concept ID:
C0018816
Congenital Abnormality
An anomaly of the intra-atrial or intraventricular septum.
Pericardial effusion
MedGen UID:
10653
Concept ID:
C0031039
Disease or Syndrome
Accumulation of fluid within the pericardium.
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.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Global brain atrophy
MedGen UID:
66840
Concept ID:
C0241816
Pathologic Function
Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
Epileptic encephalopathy
MedGen UID:
452596
Concept ID:
C0543888
Disease or Syndrome
A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
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.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Poor speech
MedGen UID:
341172
Concept ID:
C1848207
Finding
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Skeletal dysplasia
MedGen UID:
98053
Concept ID:
C0410528
Disease or Syndrome
A general term describing features characterized by abnormal development of bones and connective tissues.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Wide mouth
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.
Inversion of nipple
MedGen UID:
82844
Concept ID:
C0269269
Anatomical Abnormality
The presence of nipples that instead of pointing outward are retracted inwards.
Wide intermamillary distance
MedGen UID:
473489
Concept ID:
C1827524
Finding
A larger than usual distance between the left and right nipple.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
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 (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Himmelreich N, Dimitrov B, Zielonka M, Hüllen A, Hoffmann GF, Juenger H, Müller H, Lorenz I, Busse B, Marschall C, Schlüter G, Thiel C
Mol Genet Metab 2022 Aug;136(4):274-281. Epub 2022 Jun 26 doi: 10.1016/j.ymgme.2022.06.005. PMID: 35839600
Alsubhi S, Alhashem A, Faqeih E, Alfadhel M, Alfaifi A, Altuwaijri W, Alsahli S, Aldhalaan H, Alkuraya FS, Hundallah K, Mahmoud A, Alasmari A, Mutairi FA, Abduraouf H, AlRasheed L, Alshahwan S, Tabarki B
Am J Med Genet A 2017 Oct;173(10):2614-2621. Epub 2017 Jul 25 doi: 10.1002/ajmg.a.38358. PMID: 28742265
Jaeken J, Péanne R
J Inherit Metab Dis 2017 Jul;40(4):569-586. Epub 2017 May 8 doi: 10.1007/s10545-017-0050-6. PMID: 28484880
Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S
Mol Genet Metab 2017 Mar;120(3):235-242. Epub 2017 Jan 3 doi: 10.1016/j.ymgme.2016.12.014. PMID: 28122681
Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D
J Inherit Metab Dis 2017 Mar;40(2):195-207. Epub 2017 Jan 20 doi: 10.1007/s10545-016-0012-4. PMID: 28108845

Diagnosis

Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB
J Inherit Metab Dis 2020 Mar;43(2):223-233. Epub 2019 Nov 8 doi: 10.1002/jimd.12162. PMID: 31420886
Jaeken J, Péanne R
J Inherit Metab Dis 2017 Jul;40(4):569-586. Epub 2017 May 8 doi: 10.1007/s10545-017-0050-6. PMID: 28484880
Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S
Mol Genet Metab 2017 Mar;120(3):235-242. Epub 2017 Jan 3 doi: 10.1016/j.ymgme.2016.12.014. PMID: 28122681
Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D
J Inherit Metab Dis 2017 Mar;40(2):195-207. Epub 2017 Jan 20 doi: 10.1007/s10545-016-0012-4. PMID: 28108845
Barone R, Fiumara A, Jaeken J
Semin Neurol 2014 Jul;34(3):357-66. Epub 2014 Sep 5 doi: 10.1055/s-0034-1387197. PMID: 25192513

Prognosis

Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ
J Inherit Metab Dis 2022 Jul;45(4):769-781. Epub 2022 Mar 28 doi: 10.1002/jimd.12496. PMID: 35279850Free PMC Article
Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB
J Inherit Metab Dis 2020 Mar;43(2):223-233. Epub 2019 Nov 8 doi: 10.1002/jimd.12162. PMID: 31420886
Hykollari A, Balog CI, Rendić D, Braulke T, Wilson IB, Paschinger K
J Proteome Res 2013 Mar 1;12(3):1173-87. Epub 2013 Jan 27 doi: 10.1021/pr300806b. PMID: 23320427Free PMC Article
Baysal BE, Willett-Brozick JE, Badner JA, Corona W, Ferrell RE, Nimgaonkar VL, Detera-Wadleigh SD
Neurogenetics 2002 Mar;4(1):43-53. doi: 10.1007/s10048-001-0129-x. PMID: 12030331

Clinical prediction guides

Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ
J Inherit Metab Dis 2022 Jul;45(4):769-781. Epub 2022 Mar 28 doi: 10.1002/jimd.12496. PMID: 35279850Free PMC Article
Hykollari A, Balog CI, Rendić D, Braulke T, Wilson IB, Paschinger K
J Proteome Res 2013 Mar 1;12(3):1173-87. Epub 2013 Jan 27 doi: 10.1021/pr300806b. PMID: 23320427Free PMC Article
Baysal BE, Willett-Brozick JE, Badner JA, Corona W, Ferrell RE, Nimgaonkar VL, Detera-Wadleigh SD
Neurogenetics 2002 Mar;4(1):43-53. doi: 10.1007/s10048-001-0129-x. PMID: 12030331

Recent systematic reviews

Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article
Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB
J Inherit Metab Dis 2020 Mar;43(2):223-233. Epub 2019 Nov 8 doi: 10.1002/jimd.12162. PMID: 31420886
Marques-da-Silva D, Dos Reis Ferreira V, Monticelli M, Janeiro P, Videira PA, Witters P, Jaeken J, Cassiman D
J Inherit Metab Dis 2017 Mar;40(2):195-207. Epub 2017 Jan 20 doi: 10.1007/s10545-016-0012-4. PMID: 28108845

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