Alg12-cdg
Description
ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).
Clinical Features
Top most frequent phenotypes and symptoms related to Alg12-cdg
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Failure to thrive
- Sensorineural hearing impairment
- Abnormal facial shape
- Muscular hypotonia
- Cognitive impairment
And another 35 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Alg12-cdg Is also known as cdg1g, mannosyltransferase 8 deficiency, congenital disorder of glycosylation type ig, cdgig, cdg ig, carbohydrate deficient glycoprotein syndrome type ig, cdg syndrome type ig, congenital disorder of glycosylation type 1g, cdg-ig.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Alg12-cdg Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1 , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
![]() By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SLC35A1, COG5, ALG9, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
ALG12
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, MOGS, SRD5A3 , (...)
View the complete list with 19 more genes
Specificity
3 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
ALG12, ALG3, ALG2, ALG8, DPM1, MPDU1
Specificity
17 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
ALG12
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, TMEM199, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, SLC39A8, GMPPA, ALG3, ALG6 , (...)
View the complete list with 30 more genes
Specificity
2 %
Genes
100 % |
You can get up to 22 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI CHROMOSOME 2p16.1-p15 DELETION SYNDROME CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1; CPSQ1 ACROMEGALOID FACIAL APPEARANCE SYNDROME MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51