CDG1P
MCID: CNG193
MIFTS: 30

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

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 57 13 72
Congenital Disorder of Glycosylation Type 1p 59 29 6
Cdg1p 57 59 74
Congenital Disorder of Glycosylation Type Ip 59 74
Congenital Disorder of Glycosylation 1p 12 74
Cdg-Ip 59 74
Carbohydrate Deficient Glycoprotein Syndrome Type Ip 59
Glycosylation, Congenital Disorder of, Type Ip 40
Congenital Disorder of Glycosylation Ip 12
Cdg Syndrome Type Ip 59
Alg11-Cdg 59
Cdg Ip 74
Cdgip 74

Characteristics:

Orphanet epidemiological data:

59
alg11-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first year of life


HPO:

32
congenital disorder of glycosylation, type ip:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080567
MeSH 44 D018981
ICD10 via Orphanet 34 E77.8
Orphanet 59 ORPHA280071
MedGen 42 C3150913
UMLS 72 C3150913

Summaries for Congenital Disorder of Glycosylation, Type Ip

UniProtKB/Swiss-Prot : 74 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). Related phenotypes are microcephaly and sensorineural hearing impairment

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:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
3 inverted nipples 32 occasional (7.5%) HP:0003186
4 high forehead 32 occasional (7.5%) HP:0000348
5 seizures 32 HP:0001250
6 global developmental delay 32 HP:0001263
7 neonatal hypotonia 32 HP:0001319
8 vomiting 32 HP:0002013
9 feeding difficulties 32 HP:0011968
10 strabismus 32 HP:0000486
11 absent speech 32 HP:0001344
12 opisthotonus 32 HP:0002179
13 type i transferrin isoform profile 32 HP:0003642
14 temperature instability 32 HP:0005968
15 psychomotor retardation 32 HP:0025356

Symptoms via clinical synopsis from OMIM:

57
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

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. 8 71
22213132 2012
2
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. 8 71
20080937 2010
3
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 71
20301507 2005
4
ALG11-CDG syndrome: Expanding the phenotype. 38
30676690 2019

Variations for Congenital Disorder of Glycosylation, Type Ip

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

6 (show all 19)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALG11 NM_001004127.3(ALG11): c.257T> C (p.Leu86Ser) single nucleotide variant Pathogenic rs267606652 13:52593261-52593261 13:52019125-52019125
2 ALG11 NM_001004127.3(ALG11): c.623_642del (p.Ser208fs) deletion Pathogenic rs387907180 13:52598489-52598508 13:52024353-52024372
3 ALG11 NM_001004127.3(ALG11): c.836A> C (p.Tyr279Ser) single nucleotide variant Pathogenic rs387907181 13:52598702-52598702 13:52024566-52024566
4 ALG11 NM_001004127.3(ALG11): c.1142T> C (p.Leu381Ser) single nucleotide variant Pathogenic rs387907182 13:52599008-52599008 13:52024872-52024872
5 ALG11 NM_001004127.3(ALG11): c.1192G> A (p.Glu398Lys) single nucleotide variant Pathogenic rs387907183 13:52599058-52599058 13:52024922-52024922
6 ALG11 NM_001004127.3(ALG11): c.953A> C (p.Gln318Pro) single nucleotide variant Pathogenic rs387907184 13:52598819-52598819 13:52024683-52024683
7 ALG11 NM_001004127.3(ALG11): c.406C> T (p.Arg136Cys) single nucleotide variant Uncertain significance rs150101415 13:52598272-52598272 13:52024136-52024136
8 ALG11 NC_000013.10: g.(?_52538988)_(52602746_?)dup duplication Uncertain significance 13:52538988-52602746 13:51964852-52028610
9 ALG11 NM_001004127.3(ALG11): c.823A> G (p.Thr275Ala) single nucleotide variant Uncertain significance 13:52598689-52598689 13:52024553-52024553
10 ALG11 NM_001004127.3(ALG11): c.5C> T (p.Ala2Val) single nucleotide variant Uncertain significance 13:52586559-52586559 13:52012423-52012423
11 ALG11 NM_001004127.3(ALG11): c.899G> A (p.Gly300Glu) single nucleotide variant Uncertain significance 13:52598765-52598765 13:52024629-52024629
12 ALG11 NM_001004127.3(ALG11): c.256T> G (p.Leu86Val) single nucleotide variant Uncertain significance rs182350911 13:52593260-52593260 13:52019124-52019124
13 ALG11 NM_001004127.3(ALG11): c.44+324T> C single nucleotide variant Likely benign rs77505745 13:52586922-52586922 13:52012786-52012786
14 ALG11 NM_001004127.3(ALG11): c.1107T> C (p.Tyr369=) single nucleotide variant Benign/Likely benign rs146432805 13:52598973-52598973 13:52024837-52024837
15 ALG11 NM_001004127.3(ALG11): c.323A> G (p.Asn108Ser) single nucleotide variant Benign/Likely benign rs17480245 13:52598189-52598189 13:52024053-52024053
16 ALG11 NM_001004127.3(ALG11): c.173A> T (p.Asn58Ile) single nucleotide variant Benign/Likely benign rs150818619 13:52593177-52593177 13:52019041-52019041
17 ALG11 NM_001004127.3(ALG11): c.933G> A (p.Pro311=) single nucleotide variant Benign/Likely benign rs61958802 13:52598799-52598799 13:52024663-52024663
18 ALG11 NM_001004127.3(ALG11): c.1032T> G (p.Gly344=) single nucleotide variant Benign/Likely benign rs143967675 13:52598898-52598898 13:52024762-52024762
19 ALG11 NM_001004127.2(ALG11): c.-674A> G single nucleotide variant Benign rs28362532 13:52585881-52585881 13:52011745-52011745

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

74
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....