CDG1P
MCID: CNG193
MIFTS: 34

Congenital Disorder of Glycosylation, Type Ip (CDG1P)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Ip

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Ip:

Name: Congenital Disorder of Glycosylation, Type Ip 56 13 71
Congenital Disorder of Glycosylation Type 1p 58 29 6
Cdg1p 56 58 73
Congenital Disorder of Glycosylation Type Ip 58 73
Congenital Disorder of Glycosylation 1p 12 73
Cdg-Ip 58 73
Carbohydrate Deficient Glycoprotein Syndrome Type Ip 58
Glycosylation, Congenital Disorder of, Type Ip 39
Congenital Disorder of Glycosylation Ip 12
Cdg Syndrome Type Ip 58
Alg11-Cdg 58
Cdg Ip 73
Cdgip 73

Characteristics:

Orphanet epidemiological data:

58
alg11-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in first year of life


HPO:

31
congenital disorder of glycosylation, type ip:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Ip

UniProtKB/Swiss-Prot : 73 Congenital disorder of glycosylation 1P: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ip, also known as congenital disorder of glycosylation type 1p, is related to congenital disorder of glycosylation, type in and congenital disorders of n-linked glycosylation and multiple pathway, and has symptoms including seizures, opisthotonus and vomiting, recurrent. An important gene associated with Congenital Disorder of Glycosylation, Type Ip is ALG11 (ALG11 Alpha-1,2-Mannosyltransferase). Affiliated tissues include skin, eye and bone, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has material basis in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.

More information from OMIM: 613661 PS212065

Related Diseases for Congenital Disorder of Glycosylation, Type Ip

Diseases in the Disorder of Multiple Glycosylation family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type in
Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Iij
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type Iil
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iiq

Diseases related to Congenital Disorder of Glycosylation, Type Ip via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 10.2
2 congenital disorders of n-linked glycosylation and multiple pathway 10.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 sensorineural hearing loss 10.2
5 microcephaly 10.2
6 cerebral atrophy 10.2
7 strabismus 10.0
8 mechanical strabismus 10.0
9 hypotonia 10.0

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Ip:



Diseases related to Congenital Disorder of Glycosylation, Type Ip

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ip

Human phenotypes related to Congenital Disorder of Glycosylation, Type Ip:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 impaired social interactions 58 31 hallmark (90%) Very frequent (99-80%) HP:0000735
5 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
6 type i transferrin isoform profile 58 31 hallmark (90%) Very frequent (99-80%) HP:0003642
7 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
8 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
9 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
10 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
11 microcephaly 58 31 occasional (7.5%) Frequent (79-30%) HP:0000252
12 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
13 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
14 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
15 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
16 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
17 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
18 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
19 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
20 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
21 inverted nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0003186
22 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
23 hypokinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002375
24 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
25 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
26 episodic vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002572
27 opisthotonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002179
28 eeg with burst suppression 58 31 occasional (7.5%) Occasional (29-5%) HP:0010851
29 abnormal adipose tissue morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0009124
30 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
31 widened subarachnoid space 58 31 occasional (7.5%) Occasional (29-5%) HP:0012704
32 decreased corneal reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0008000
33 limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002509
34 cerebral white matter atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012762
35 temperature instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0005968
36 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
37 gray matter heterotopia 31 occasional (7.5%) HP:0002282
38 neonatal hypotonia 31 HP:0001319
39 hypertonia 58 Frequent (79-30%)
40 vomiting 31 HP:0002013
41 absent speech 31 HP:0001344
42 abnormality of the cerebral white matter 58 Occasional (29-5%)
43 heterotopia 58 Occasional (29-5%)
44 abnormality of skeletal morphology 58 Occasional (29-5%)
45 psychomotor retardation 31 HP:0025356
46 abnormal isoelectric focusing of serum transferrin 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
opisthotonus
hypotonia, neonatal
psychomotor retardation, severe
lack of speech
more
Abdomen Gastrointestinal:
poor feeding
recurrent vomiting

Head And Neck Head:
small head (rare)

Head And Neck Ears:
sensorineural deafness (rare)

Skin Nails Hair Hair:
low hairline (rare)

Head And Neck Eyes:
strabismus
delayed pupillary responses (in some patients)
lack of blink reflex (in some patients)
poor response to light (in some patients)

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin (type 1 pattern)
increased di- and asialo-transferrin
decreased tetrasialo-transferrin
accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts

Head And Neck Face:
high forehead (rare)

Chest Breasts:
inverted nipples (rare)

Metabolic Features:
body temperature instability

Clinical features from OMIM:

613661

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Ip:


seizures, opisthotonus, vomiting, recurrent

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ip

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Ip

Genetic Tests for Congenital Disorder of Glycosylation, Type Ip

Genetic tests related to Congenital Disorder of Glycosylation, Type Ip:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1p 29 ALG11

Anatomical Context for Congenital Disorder of Glycosylation, Type Ip

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type Ip:

40
Skin, Eye, Bone, Liver

Publications for Congenital Disorder of Glycosylation, Type Ip

Articles related to Congenital Disorder of Glycosylation, Type Ip:

# Title Authors PMID Year
1
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. 56 6
22213132 2012
2
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. 56 6
20080937 2010
3
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
4
ALG11-CDG syndrome: Expanding the phenotype. 61
30676690 2019

Variations for Congenital Disorder of Glycosylation, Type Ip

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Ip:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALG11 NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser)SNV Pathogenic 18393 rs267606652 13:52593261-52593261 13:52019125-52019125
2 ALG11 NM_001004127.3(ALG11):c.623_642del (p.Ser208fs)deletion Pathogenic 31643 rs387907180 13:52598488-52598507 13:52024352-52024371
3 ALG11 NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser)SNV Pathogenic 31644 rs387907181 13:52598702-52598702 13:52024566-52024566
4 ALG11 NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser)SNV Pathogenic 31645 rs387907182 13:52599008-52599008 13:52024872-52024872
5 ALG11 NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys)SNV Pathogenic 31646 rs387907183 13:52599058-52599058 13:52024922-52024922
6 ALG11 NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro)SNV Pathogenic 31647 rs387907184 13:52598819-52598819 13:52024683-52024683
7 ALG11 NM_001004127.3(ALG11):c.256T>G (p.Leu86Val)SNV Uncertain significance 312411 rs182350911 13:52593260-52593260 13:52019124-52019124
8 ALG11 NC_000013.10:g.(?_52538988)_(52602746_?)dupduplication Uncertain significance 584213 13:52538988-52602746 13:51964852-52028610
9 ALG11 NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala)SNV Uncertain significance 575356 rs1401571024 13:52598689-52598689 13:52024553-52024553
10 ALG11 NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)SNV Uncertain significance 653266 13:52586559-52586559 13:52012423-52012423
11 ALG11 NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)SNV Uncertain significance 654338 13:52598765-52598765 13:52024629-52024629
12 ALG11 NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys)SNV Uncertain significance 538870 rs150101415 13:52598272-52598272 13:52024136-52024136
13 ALG11 NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser)SNV Benign/Likely benign 196291 rs17480245 13:52598189-52598189 13:52024053-52024053
14 ALG11 NM_001004127.3(ALG11):c.933G>A (p.Pro311=)SNV Benign/Likely benign 312413 rs61958802 13:52598799-52598799 13:52024663-52024663
15 ALG11 , ATP7B NM_001004127.2(ALG11):c.-674A>GSNV Benign 538871 rs28362532 13:52585881-52585881 13:52011745-52011745

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Ip:

73
# Symbol AA change Variation ID SNP ID
1 ALG11 p.Leu86Ser VAR_064908 rs267606652
2 ALG11 p.Tyr279Ser VAR_068070 rs387907181
3 ALG11 p.Gln318Pro VAR_068071 rs387907184
4 ALG11 p.Leu381Ser VAR_068072 rs387907182
5 ALG11 p.Glu398Lys VAR_068073 rs387907183

Expression for Congenital Disorder of Glycosylation, Type Ip

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Ip.

Pathways for Congenital Disorder of Glycosylation, Type Ip

GO Terms for Congenital Disorder of Glycosylation, Type Ip

Sources for Congenital Disorder of Glycosylation, Type Ip

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7 CNVD
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10 dbSNP
11 DGIdb
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18 ExPASy
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32 ICD10
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56 OMIM
57 OMIM via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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