CDG1P
MCID: CNG193
MIFTS: 28

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 58 13 74
Congenital Disorder of Glycosylation Type 1p 60 30 6
Cdg1p 58 60 76
Congenital Disorder of Glycosylation Type Ip 60 76
Cdg-Ip 60 76
Carbohydrate Deficient Glycoprotein Syndrome Type Ip 60
Glycosylation, Congenital Disorder of, Type Ip 41
Congenital Disorder of Glycosylation 1p 76
Cdg Syndrome Type Ip 60
Alg11-Cdg 60
Cdg Ip 76
Cdgip 76

Characteristics:

Orphanet epidemiological data:

60
alg11-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first year of life


HPO:

33
congenital disorder of glycosylation, type ip:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ip

UniProtKB/Swiss-Prot : 76 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, is also known as congenital disorder of glycosylation type 1p, 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, liver and bone, and related phenotypes are microcephaly and sensorineural hearing impairment

Description from OMIM: 613661

Related Diseases for Congenital Disorder of Glycosylation, Type Ip

Diseases in the Congenital Disorder of Glycosylation, Type Ii 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 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

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ip

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

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 microcephaly 33 occasional (7.5%) HP:0000252
2 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
3 inverted nipples 33 occasional (7.5%) HP:0003186
4 high forehead 33 occasional (7.5%) HP:0000348
5 seizures 33 HP:0001250
6 global developmental delay 33 HP:0001263
7 neonatal hypotonia 33 HP:0001319
8 vomiting 33 HP:0002013
9 feeding difficulties 33 HP:0011968
10 strabismus 33 HP:0000486
11 absent speech 33 HP:0001344
12 opisthotonus 33 HP:0002179
13 type i transferrin isoform profile 33 HP:0003642
14 temperature instability 33 HP:0005968
15 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
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 30 ALG11

Anatomical Context for Congenital Disorder of Glycosylation, Type Ip

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

42
Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Ip

Articles related to Congenital Disorder of Glycosylation, Type Ip:

# Title Authors Year
1
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. ( 22213132 )
2012
2
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. ( 20080937 )
2010

Variations for Congenital Disorder of Glycosylation, Type Ip

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

76
# 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

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

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG11 NM_001004127.2(ALG11): c.257T> C (p.Leu86Ser) single nucleotide variant Pathogenic rs267606652 GRCh37 Chromosome 13, 52593261: 52593261
2 ALG11 NM_001004127.2(ALG11): c.257T> C (p.Leu86Ser) single nucleotide variant Pathogenic rs267606652 GRCh38 Chromosome 13, 52019125: 52019125
3 ALG11 NM_001004127.2(ALG11): c.623_642del (p.Ser208Tyrfs) deletion Pathogenic rs387907180 GRCh37 Chromosome 13, 52598489: 52598508
4 ALG11 NM_001004127.2(ALG11): c.623_642del (p.Ser208Tyrfs) deletion Pathogenic rs387907180 GRCh38 Chromosome 13, 52024353: 52024372
5 ALG11 NM_001004127.2(ALG11): c.836A> C (p.Tyr279Ser) single nucleotide variant Pathogenic rs387907181 GRCh37 Chromosome 13, 52598702: 52598702
6 ALG11 NM_001004127.2(ALG11): c.836A> C (p.Tyr279Ser) single nucleotide variant Pathogenic rs387907181 GRCh38 Chromosome 13, 52024566: 52024566
7 ALG11 NM_001004127.2(ALG11): c.1142T> C (p.Leu381Ser) single nucleotide variant Pathogenic rs387907182 GRCh37 Chromosome 13, 52599008: 52599008
8 ALG11 NM_001004127.2(ALG11): c.1142T> C (p.Leu381Ser) single nucleotide variant Pathogenic rs387907182 GRCh38 Chromosome 13, 52024872: 52024872
9 ALG11 NM_001004127.2(ALG11): c.1192G> A (p.Glu398Lys) single nucleotide variant Pathogenic rs387907183 GRCh37 Chromosome 13, 52599058: 52599058
10 ALG11 NM_001004127.2(ALG11): c.1192G> A (p.Glu398Lys) single nucleotide variant Pathogenic rs387907183 GRCh38 Chromosome 13, 52024922: 52024922
11 ALG11 NM_001004127.2(ALG11): c.953A> C (p.Gln318Pro) single nucleotide variant Pathogenic rs387907184 GRCh37 Chromosome 13, 52598819: 52598819
12 ALG11 NM_001004127.2(ALG11): c.953A> C (p.Gln318Pro) single nucleotide variant Pathogenic rs387907184 GRCh38 Chromosome 13, 52024683: 52024683
13 ALG11 NM_001004127.2(ALG11): c.323A> G (p.Asn108Ser) single nucleotide variant Benign/Likely benign rs17480245 GRCh37 Chromosome 13, 52598189: 52598189
14 ALG11 NM_001004127.2(ALG11): c.323A> G (p.Asn108Ser) single nucleotide variant Benign/Likely benign rs17480245 GRCh38 Chromosome 13, 52024053: 52024053
15 ALG11 NM_001004127.2(ALG11): c.173A> T (p.Asn58Ile) single nucleotide variant Benign/Likely benign rs150818619 GRCh37 Chromosome 13, 52593177: 52593177
16 ALG11 NM_001004127.2(ALG11): c.173A> T (p.Asn58Ile) single nucleotide variant Benign/Likely benign rs150818619 GRCh38 Chromosome 13, 52019041: 52019041
17 ALG11 NM_001004127.2(ALG11): c.933G> A (p.Pro311=) single nucleotide variant Benign/Likely benign rs61958802 GRCh38 Chromosome 13, 52024663: 52024663
18 ALG11 NM_001004127.2(ALG11): c.933G> A (p.Pro311=) single nucleotide variant Benign/Likely benign rs61958802 GRCh37 Chromosome 13, 52598799: 52598799
19 ALG11 NM_001004127.2(ALG11): c.1032T> G (p.Gly344=) single nucleotide variant Benign/Likely benign rs143967675 GRCh37 Chromosome 13, 52598898: 52598898
20 ALG11 NM_001004127.2(ALG11): c.1032T> G (p.Gly344=) single nucleotide variant Benign/Likely benign rs143967675 GRCh38 Chromosome 13, 52024762: 52024762
21 ALG11 NM_001004127.2(ALG11): c.44+324T> C single nucleotide variant Likely benign rs77505745 GRCh37 Chromosome 13, 52586922: 52586922
22 ALG11 NM_001004127.2(ALG11): c.44+324T> C single nucleotide variant Likely benign rs77505745 GRCh38 Chromosome 13, 52012786: 52012786
23 ALG11 NM_001004127.2(ALG11): c.1107T> C (p.Tyr369=) single nucleotide variant Benign/Likely benign rs146432805 GRCh37 Chromosome 13, 52598973: 52598973
24 ALG11 NM_001004127.2(ALG11): c.1107T> C (p.Tyr369=) single nucleotide variant Benign/Likely benign rs146432805 GRCh38 Chromosome 13, 52024837: 52024837
25 ALG11 NM_001004127.2(ALG11): c.406C> T (p.Arg136Cys) single nucleotide variant Uncertain significance rs150101415 GRCh38 Chromosome 13, 52024136: 52024136
26 ALG11 NM_001004127.2(ALG11): c.406C> T (p.Arg136Cys) single nucleotide variant Uncertain significance rs150101415 GRCh37 Chromosome 13, 52598272: 52598272
27 ALG11 NM_001004127.2(ALG11): c.-674A> G single nucleotide variant Benign rs28362532 GRCh37 Chromosome 13, 52585881: 52585881
28 ALG11 NM_001004127.2(ALG11): c.-674A> G single nucleotide variant Benign rs28362532 GRCh38 Chromosome 13, 52011745: 52011745
29 ALG11 NC_000013.11: g.(?_51964852)_(52028610_?)dup duplication Uncertain significance GRCh37 Chromosome 13, 52538988: 52602746
30 ALG11 NC_000013.11: g.(?_51964852)_(52028610_?)dup duplication Uncertain significance GRCh38 Chromosome 13, 51964852: 52028610
31 ALG11 NM_001004127.2(ALG11): c.823A> G (p.Thr275Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 52598689: 52598689
32 ALG11 NM_001004127.2(ALG11): c.823A> G (p.Thr275Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 52024553: 52024553

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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75 UMLS via Orphanet
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