CDG1Q
MCID: CNG200
MIFTS: 32

Congenital Disorder of Glycosylation, Type Iq (CDG1Q)

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 Iq

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

Name: Congenital Disorder of Glycosylation, Type Iq 57 13
Congenital Disorder of Glycosylation Type 1q 29 6
Cdg Iq 57 75
Cdg1q 57 75
Cdgiq 57 75
Coloboma, Ocular, with Ichthyosis, Brain Malformations, and Endocrine Abnormalities 57
Coloboma, Ocular, and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 73
Ocular Colobomas, Ichthyosis, Brain Malformations and Endocrine Abnormalities 53
Ocular Coloboma Ichthyosis Brain Malformations and Endocrine Abnormalities 75
Glycosylation, Congenital Disorder of, Type Iq 40
Congenital Disorder of Glycosylation Type Iq 75
Congenital Disorder of Glycosylation 1q 75
Cdg Iq; Cdgiq 57
Cdg-Iq 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

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


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iq

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 1Q: 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 Iq, also known as congenital disorder of glycosylation type 1q, is related to kahrizi syndrome and ichthyosis. An important gene associated with Congenital Disorder of Glycosylation, Type Iq is SRD5A3 (Steroid 5 Alpha-Reductase 3). Affiliated tissues include brain, skin and liver, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 612379

Related Diseases for Congenital Disorder of Glycosylation, Type Iq

Diseases in the Congenital Disorder of Glycosylation, Type in 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 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 Iq via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kahrizi syndrome 11.3
2 ichthyosis 10.3
3 congenital disorder of glycosylation, type in 10.1

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iq

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
nystagmus
coloboma
hypoplasia of the optic disc
visual loss, variable

Head And Neck Nose:
depressed nasal bridge

Hematology:
microcytic anemia
antithrombin iii deficiency
coagulation defects

Skin Nails Hair Hair:
hypertrichosis

Skin Nails Hair Skin:
loose skin at birth
ichthyosiform dermatitis
hyperkeratosis, particularly on palms and soles of feet
dark pigmentation of knees and dorsum of hands and feet

Head And Neck Ears:
low-set ears

Head And Neck Head:
brachycephaly

Neurologic Central Nervous System:
cerebellar vermis hypoplasia
hypotonia
delayed motor development
mental retardation
pituitary gland hypoplasia
more
Laboratory Abnormalities:
elevated transaminases
abnormal isoelectric focusing of serum transferrin (type 1 pattern)

Endocrine Features:
low igf1 and igfbp3


Clinical features from OMIM:

612379

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

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 depressed nasal bridge 32 HP:0005280
6 ichthyosis 32 HP:0008064
7 brachycephaly 32 HP:0000248
8 hyperkeratosis 32 HP:0000962
9 microcytic anemia 32 HP:0001935
10 motor delay 32 HP:0001270
11 visual loss 32 frequent (33%) HP:0000572
12 eczema 32 HP:0000964
13 abnormality of skin pigmentation 32 HP:0001000
14 polymicrogyria 32 HP:0002126
15 generalized hypotonia 32 HP:0001290
16 cerebellar vermis hypoplasia 32 HP:0001320
17 coloboma 32 HP:0000589
18 hypertrichosis 32 HP:0000998
19 cutis laxa 32 HP:0000973
20 type i transferrin isoform profile 32 HP:0003642
21 elevated hepatic transaminase 32 HP:0002910
22 reduced antithrombin iii activity 32 HP:0001976

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iq

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iq

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1q 29 SRD5A3

Anatomical Context for Congenital Disorder of Glycosylation, Type Iq

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

41
Brain, Skin, Liver, Bone, Eye, Pituitary

Publications for Congenital Disorder of Glycosylation, Type Iq

Articles related to Congenital Disorder of Glycosylation, Type Iq:

# Title Authors Year
1
A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. ( 18271001 )
2008

Variations for Congenital Disorder of Glycosylation, Type Iq

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

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 SRD5A3 NM_024592.4(SRD5A3): c.286_288delCAAinsTGAGTAAGGC (p.Gln96Terfs) indel Pathogenic rs587776521 GRCh37 Chromosome 4, 56225577: 56225579
2 SRD5A3 NM_024592.4(SRD5A3): c.286_288delCAAinsTGAGTAAGGC (p.Gln96Terfs) indel Pathogenic rs587776521 GRCh38 Chromosome 4, 55359410: 55359412
3 SRD5A3 NM_024592.4(SRD5A3): c.320G> A (p.Trp107Ter) single nucleotide variant Pathogenic rs267607093 GRCh37 Chromosome 4, 56225611: 56225611
4 SRD5A3 NM_024592.4(SRD5A3): c.320G> A (p.Trp107Ter) single nucleotide variant Pathogenic rs267607093 GRCh38 Chromosome 4, 55359444: 55359444
5 SRD5A3 NM_024592.4(SRD5A3): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic rs267607095 GRCh37 Chromosome 4, 56230300: 56230300
6 SRD5A3 NM_024592.4(SRD5A3): c.424C> T (p.Arg142Ter) single nucleotide variant Pathogenic rs267607095 GRCh38 Chromosome 4, 55364133: 55364133
7 SRD5A3 NM_024592.4(SRD5A3): c.489C> A (p.Tyr163Ter) single nucleotide variant Pathogenic rs267607092 GRCh37 Chromosome 4, 56230365: 56230365
8 SRD5A3 NM_024592.4(SRD5A3): c.489C> A (p.Tyr163Ter) single nucleotide variant Pathogenic rs267607092 GRCh38 Chromosome 4, 55364198: 55364198
9 SRD5A3 NM_024592.4(SRD5A3): c.29C> A (p.Ser10Ter) single nucleotide variant Pathogenic rs267607094 GRCh37 Chromosome 4, 56212532: 56212532
10 SRD5A3 NM_024592.4(SRD5A3): c.29C> A (p.Ser10Ter) single nucleotide variant Pathogenic rs267607094 GRCh38 Chromosome 4, 55346365: 55346365
11 SRD5A3 NM_024592.4(SRD5A3): c.57G> A (p.Trp19Ter) single nucleotide variant Pathogenic rs398124401 GRCh37 Chromosome 4, 56212560: 56212560
12 SRD5A3 NM_024592.4(SRD5A3): c.57G> A (p.Trp19Ter) single nucleotide variant Pathogenic rs398124401 GRCh38 Chromosome 4, 55346393: 55346393
13 SRD5A3 NM_024592.4(SRD5A3): c.603G> A (p.Trp201Ter) single nucleotide variant Pathogenic rs765191836 GRCh37 Chromosome 4, 56233795: 56233795
14 SRD5A3 NM_024592.4(SRD5A3): c.603G> A (p.Trp201Ter) single nucleotide variant Pathogenic rs765191836 GRCh38 Chromosome 4, 55367628: 55367628
15 SRD5A3 NM_024592.4(SRD5A3): c.925C> G (p.His309Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61733673 GRCh38 Chromosome 4, 55370059: 55370059
16 SRD5A3 NM_024592.4(SRD5A3): c.925C> G (p.His309Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61733673 GRCh37 Chromosome 4, 56236226: 56236226
17 SRD5A3 NM_024592.4(SRD5A3): c.672C> T (p.Leu224=) single nucleotide variant Likely benign rs144834899 GRCh37 Chromosome 4, 56233864: 56233864
18 SRD5A3 NM_024592.4(SRD5A3): c.672C> T (p.Leu224=) single nucleotide variant Likely benign rs144834899 GRCh38 Chromosome 4, 55367697: 55367697
19 SRD5A3 NM_024592.4(SRD5A3): c.364G> T (p.Gly122Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 55359488: 55359488
20 SRD5A3 NM_024592.4(SRD5A3): c.364G> T (p.Gly122Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 56225655: 56225655
21 SRD5A3 NM_024592.4(SRD5A3): c.140A> G (p.Gln47Arg) single nucleotide variant Uncertain significance rs764835755 GRCh37 Chromosome 4, 56212643: 56212643
22 SRD5A3 NM_024592.4(SRD5A3): c.140A> G (p.Gln47Arg) single nucleotide variant Uncertain significance rs764835755 GRCh38 Chromosome 4, 55346476: 55346476

Expression for Congenital Disorder of Glycosylation, Type Iq

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

Pathways for Congenital Disorder of Glycosylation, Type Iq

GO Terms for Congenital Disorder of Glycosylation, Type Iq

Sources for Congenital Disorder of Glycosylation, Type Iq

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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