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Alacrima, congenital, autosomal recessive

MedGen UID:
861034
•Concept ID:
C4012597
•
Disease or Syndrome
Synonym: ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
 
Monarch Initiative: MONDO:0011105
OMIM®: 601549

Clinical features

From HPO
Photophobia
MedGen UID:
43220
•Concept ID:
C0085636
•
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
See: Feature record | Search on this feature
Alacrima
MedGen UID:
87488
•Concept ID:
C0344505
•
Disease or Syndrome
Absence of tear secretion.
See: Feature record | Search on this feature
Punctate corneal epithelial erosions
MedGen UID:
330398
•Concept ID:
C1832170
•
Finding
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K, Zou L, Wang L, Chen L, Wang JS
J Hum Genet 2020 Apr;65(4):387-396. Epub 2020 Jan 21 doi: 10.1038/s10038-019-0719-9. PMID: 31965062

Prognosis

Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K, Zou L, Wang L, Chen L, Wang JS
J Hum Genet 2020 Apr;65(4):387-396. Epub 2020 Jan 21 doi: 10.1038/s10038-019-0719-9. PMID: 31965062

Clinical prediction guides

Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K, Zou L, Wang L, Chen L, Wang JS
J Hum Genet 2020 Apr;65(4):387-396. Epub 2020 Jan 21 doi: 10.1038/s10038-019-0719-9. PMID: 31965062

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    • OMIM
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