Alacrimia-choreoathetosis-liver Dysfunction Syndrome

Description

Alacrimia-choreoathetosis-liver dysfunction syndrome is a rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Alacrimia-choreoathetosis-liver Dysfunction Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Strabismus

And another 70 symptoms. If you need more information about this disease we can help you.

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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

Alacrimia-choreoathetosis-liver Dysfunction Syndrome Is also known as cdg1v, formerly, congenital disorder of glycosylation, type iv, formerly, ngly1 deficiency, ngly1-cddg.

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.


Mendelian

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Alacrimia-choreoathetosis-liver Dysfunction Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital disorders of glycosylation (NGS panel for 39 genes).

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 %
Osteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene).

By CGC Genetics (Portugal).

SSR4, NGLY1, STT3B, STT3A
Specificity
25 %
Genes
100 %
Congenital disorder of glycosylation type 1v (sequence analysis of NGLY1 gene).

By CGC Genetics (Portugal).

NGLY1
Specificity
100 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection.

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 %
Invitae Epilepsy Panel.

By Invitae (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SGCE, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
100 %
Invitae Rett and Angelman Syndromes and Related Disorders Panel.

By Invitae (United States).

SCN8A, SLC9A6, CDKL5, STXBP1, TCF4, UBE3A, CNTNAP2, ZEB2, NGLY1, MBD5, SATB2, KANSL1, EHMT1, IQSEC2, ADSL, DYRK1A, FOXG1, ALDH5A1, MECP2, MEF2C , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Invitae Congenital Disorders of Glycosylation Panel.

By Invitae (United States).

SEC23B, SLC35A1, SLC35A2, SSR4, TRIP11, COG5, ALG9, NGLY1, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, B3GLCT, DHDDS, GMPPA, GMPPB , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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