CDG1Q
MCID: CNG200
MIFTS: 37

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 58 29 6
Cdg1q 57 58 72
Congenital Disorder of Glycosylation Type Iq 58 72
Congenital Disorder of Glycosylation 1q 12 72
Cdg Iq 57 72
Cdg-Iq 58 72
Cdgiq 57 72
Coloboma, Ocular, with Ichthyosis, Brain Malformations, and Endocrine Abnormalities 57
Coloboma, Ocular, and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 70
Ocular Coloboma Ichthyosis Brain Malformations and Endocrine Abnormalities 72
Glycosylation, Congenital Disorder of, Type Iq 39
Congenital Disorder of Glycosylation Iq 12
Cdg Syndrome Type Iq 58
Cdg Iq; Cdgiq 57
Srd5a3-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
srd5a3-cdg
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Congenital Disorder of Glycosylation, Type Iq

UniProtKB/Swiss-Prot : 72 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 3-methylglutaconic aciduria, type iii. An important gene associated with Congenital Disorder of Glycosylation, Type Iq is SRD5A3 (Steroid 5 Alpha-Reductase 3). Affiliated tissues include brain, eye and liver, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has material basis in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.

More information from OMIM: 612379 PS212065

Related Diseases for Congenital Disorder of Glycosylation, Type Iq

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 Iir 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 Congenital Disorder of Glycosylation, Type Iit

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 kahrizi syndrome 11.3
2 3-methylglutaconic aciduria, type iii 10.2
3 ataxia and polyneuropathy, adult-onset 10.2
4 congenital disorders of n-linked glycosylation and multiple pathway 10.2
5 coloboma of macula 10.1
6 abnormal hair, joint laxity, and developmental delay 10.1
7 retinitis pigmentosa 10.1
8 dermatitis, atopic 10.1
9 cerebellar hypoplasia 10.1
10 neuroretinitis 10.1
11 dermatitis 10.1
12 retinitis 10.1
13 cataract 10.1
14 fundus dystrophy 10.1
15 pathologic nystagmus 10.1
16 dhdds-cdg 10.1
17 inherited retinal disorder 10.1
18 congenital disorder of glycosylation, type in 10.0

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



Diseases related to Congenital Disorder of Glycosylation, Type Iq

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iq

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

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
4 type i transferrin isoform profile 58 31 hallmark (90%) Very frequent (99-80%) HP:0003642
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
7 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
8 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
9 ichthyosis 58 31 frequent (33%) Frequent (79-30%) HP:0008064
10 microcytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001935
11 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
12 optic disc hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0007766
13 coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000589
14 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
15 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
16 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
17 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
18 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
19 abnormal sacrum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005107
20 rod-cone dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000510
21 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
22 abnormality of cardiovascular system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030680
23 abnormality of the cerebellar vermis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002334
24 hypertrichosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000998
25 spotty hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005585
26 reduced antithrombin iii activity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001976
27 seizure 31 occasional (7.5%) HP:0001250
28 decreased response to growth hormone stimuation test 31 occasional (7.5%) HP:0000824
29 seizures 58 Occasional (29-5%)
30 hearing impairment 58 Excluded (0%)
31 depressed nasal bridge 31 HP:0005280
32 hypertelorism 31 HP:0000316
33 brachycephaly 31 HP:0000248
34 hyperkeratosis 31 HP:0000962
35 low-set ears 31 HP:0000369
36 motor delay 31 HP:0001270
37 eczema 31 HP:0000964
38 abnormality of coagulation 58 Occasional (29-5%)
39 polymicrogyria 31 HP:0002126
40 abnormality of the hair 58 Excluded (0%)
41 abnormal cerebellum morphology 58 Frequent (79-30%)
42 abnormality of skin pigmentation 31 HP:0001000
43 cerebellar vermis hypoplasia 31 HP:0001320
44 cutis laxa 31 HP:0000973
45 generalized hypotonia 31 HP:0001290
46 oligodontia 58 Excluded (0%)
47 growth hormone deficiency 58 Occasional (29-5%)
48 abnormality of brain morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
hypertelorism
coloboma
hypoplasia of the optic disc
visual loss, variable

Head And Neck Head:
brachycephaly

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 Nose:
depressed nasal bridge

Head And Neck Ears:
low-set ears

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 (Updated 20-May-2021)

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:

40
Brain, Eye, Liver, Cerebellum, Pituitary

Publications for Congenital Disorder of Glycosylation, Type Iq

Articles related to Congenital Disorder of Glycosylation, Type Iq:

# Title Authors PMID Year
1
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. 6 57
20637498 2010
2
A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. 57 6
18271001 2008
3
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. 6
28940310 2018
4
Life with too much polyprenol: polyprenol reductase deficiency. 6
22304929 2012
5
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. 6
20852264 2010
6
Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing. 61
29998879 2018

Variations for Congenital Disorder of Glycosylation, Type Iq

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

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SRD5A3 NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter) SNV Pathogenic 18405 rs267607093 GRCh37: 4:56225611-56225611
GRCh38: 4:55359444-55359444
2 SRD5A3 NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter) SNV Pathogenic 18406 rs267607095 GRCh37: 4:56230300-56230300
GRCh38: 4:55364133-55364133
3 SRD5A3 NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter) SNV Pathogenic 18407 rs267607092 GRCh37: 4:56230365-56230365
GRCh38: 4:55364198-55364198
4 SRD5A3 NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter) SNV Pathogenic 18408 rs267607094 GRCh37: 4:56212532-56212532
GRCh38: 4:55346365-55346365
5 SRD5A3 NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter) Indel Pathogenic 18404 rs587776521 GRCh37: 4:56225577-56225579
GRCh38: 4:55359410-55359412
6 SRD5A3 NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) SNV Pathogenic 96125 rs398124401 GRCh37: 4:56212560-56212560
GRCh38: 4:55346393-55346393
7 SRD5A3 NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter) SNV Likely pathogenic 804441 rs1578209906 GRCh37: 4:56230360-56230360
GRCh38: 4:55364193-55364193
8 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) Deletion Conflicting interpretations of pathogenicity 632442 rs565935886 GRCh37: 4:56236248-56236252
GRCh38: 4:55370081-55370085
9 SRD5A3 NM_024592.5(SRD5A3):c.108G>T (p.Pro36=) SNV Conflicting interpretations of pathogenicity 703104 rs200253126 GRCh37: 4:56212611-56212611
GRCh38: 4:55346444-55346444
10 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser) SNV Conflicting interpretations of pathogenicity 212303 rs35496669 GRCh37: 4:56233758-56233758
GRCh38: 4:55367591-55367591
11 SRD5A3 NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) SNV Conflicting interpretations of pathogenicity 193456 rs376944136 GRCh37: 4:56212546-56212546
GRCh38: 4:55346379-55346379
12 SRD5A3 NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu) SNV Conflicting interpretations of pathogenicity 349006 rs199975696 GRCh37: 4:56212613-56212613
GRCh38: 4:55346446-55346446
13 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser) SNV Uncertain significance 899681 GRCh37: 4:56233865-56233865
GRCh38: 4:55367698-55367698
14 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.802G>A (p.Val268Ile) SNV Uncertain significance 899682 GRCh37: 4:56236103-56236103
GRCh38: 4:55369936-55369936
15 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.934G>C (p.Ala312Pro) SNV Uncertain significance 899683 GRCh37: 4:56236235-56236235
GRCh38: 4:55370068-55370068
16 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*1624G>A SNV Uncertain significance 899747 GRCh37: 4:56237882-56237882
GRCh38: 4:55371715-55371715
17 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*1665G>A SNV Uncertain significance 899748 GRCh37: 4:56237923-56237923
GRCh38: 4:55371756-55371756
18 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2022A>C SNV Uncertain significance 899749 GRCh37: 4:56238280-56238280
GRCh38: 4:55372113-55372113
19 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*242T>C SNV Uncertain significance 900820 GRCh37: 4:56236500-56236500
GRCh38: 4:55370333-55370333
20 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*590C>T SNV Uncertain significance 900822 GRCh37: 4:56236848-56236848
GRCh38: 4:55370681-55370681
21 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*594C>T SNV Uncertain significance 900823 GRCh37: 4:56236852-56236852
GRCh38: 4:55370685-55370685
22 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2120T>G SNV Uncertain significance 900902 GRCh37: 4:56238378-56238378
GRCh38: 4:55372211-55372211
23 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2248G>A SNV Uncertain significance 900903 GRCh37: 4:56238506-56238506
GRCh38: 4:55372339-55372339
24 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*622C>T SNV Uncertain significance 902497 GRCh37: 4:56236880-56236880
GRCh38: 4:55370713-55370713
25 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*812T>C SNV Uncertain significance 902498 GRCh37: 4:56237070-56237070
GRCh38: 4:55370903-55370903
26 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*873A>G SNV Uncertain significance 902499 GRCh37: 4:56237131-56237131
GRCh38: 4:55370964-55370964
27 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2306C>A SNV Uncertain significance 902572 GRCh37: 4:56238564-56238564
GRCh38: 4:55372397-55372397
28 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2437G>A SNV Uncertain significance 902573 GRCh37: 4:56238695-56238695
GRCh38: 4:55372528-55372528
29 SRD5A3 NM_024592.5(SRD5A3):c.-27G>T SNV Uncertain significance 903281 GRCh37: 4:56212477-56212477
GRCh38: 4:55346310-55346310
30 SRD5A3 NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr) SNV Uncertain significance 903282 GRCh37: 4:56212505-56212505
GRCh38: 4:55346338-55346338
31 SRD5A3 NM_024592.5(SRD5A3):c.124G>A (p.Gly42Ser) SNV Uncertain significance 903283 GRCh37: 4:56212627-56212627
GRCh38: 4:55346460-55346460
32 SRD5A3 NM_024592.5(SRD5A3):c.126C>G (p.Gly42=) SNV Uncertain significance 903284 GRCh37: 4:56212629-56212629
GRCh38: 4:55346462-55346462
33 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2637T>G SNV Uncertain significance 903421 GRCh37: 4:56238895-56238895
GRCh38: 4:55372728-55372728
34 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2641G>A SNV Uncertain significance 903422 GRCh37: 4:56238899-56238899
GRCh38: 4:55372732-55372732
35 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2884C>T SNV Uncertain significance 903423 GRCh37: 4:56239142-56239142
GRCh38: 4:55372975-55372975
36 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2950T>C SNV Uncertain significance 903424 GRCh37: 4:56239208-56239208
GRCh38: 4:55373041-55373041
37 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2950T>G SNV Uncertain significance 903894 GRCh37: 4:56239208-56239208
GRCh38: 4:55373041-55373041
38 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2983T>C SNV Uncertain significance 905777 GRCh37: 4:56239241-56239241
GRCh38: 4:55373074-55373074
39 SRD5A3 NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu) SNV Uncertain significance 635322 rs879845715 GRCh37: 4:56230373-56230373
GRCh38: 4:55364206-55364206
40 SRD5A3 NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe) SNV Uncertain significance 640304 rs1578206800 GRCh37: 4:56225625-56225625
GRCh38: 4:55359458-55359458
41 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu) SNV Uncertain significance 653690 rs768516153 GRCh37: 4:56233887-56233887
GRCh38: 4:55367720-55367720
42 SRD5A3 NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg) SNV Uncertain significance 579047 rs764835755 GRCh37: 4:56212643-56212643
GRCh38: 4:55346476-55346476
43 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2560A>G SNV Uncertain significance 349046 rs886059483 GRCh37: 4:56238818-56238818
GRCh38: 4:55372651-55372651
44 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*707G>T SNV Uncertain significance 349020 rs886059474 GRCh37: 4:56236965-56236965
GRCh38: 4:55370798-55370798
45 SRD5A3 NM_024592.5(SRD5A3):c.464A>G (p.Asn155Ser) SNV Uncertain significance 349007 rs770085775 GRCh37: 4:56230340-56230340
GRCh38: 4:55364173-55364173
46 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*991C>T SNV Uncertain significance 349023 rs148298848 GRCh37: 4:56237249-56237249
GRCh38: 4:55371082-55371082
47 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2227G>A SNV Uncertain significance 349040 rs886059480 GRCh37: 4:56238485-56238485
GRCh38: 4:55372318-55372318
48 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*1504A>G SNV Uncertain significance 349026 rs188625522 GRCh37: 4:56237762-56237762
GRCh38: 4:55371595-55371595
49 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2112G>A SNV Uncertain significance 349037 rs143649104 GRCh37: 4:56238370-56238370
GRCh38: 4:55372203-55372203
50 SRD5A3-AS1 , SRD5A3 NM_024592.5(SRD5A3):c.*2915A>G SNV Uncertain significance 349054 rs62306203 GRCh37: 4:56239173-56239173
GRCh38: 4:55373006-55373006

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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