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Alacrima
Known as:
Absence of tears in the eyes
, Absent lacrimal fluids
, Absent tear secretion
Absence of tear secretion. [HPO:probinson]
National Institutes of Health
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Related topics
Related topics
7 relations
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
Dysautonomia, Familial
Glucocorticoid deficiency with achalasia
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
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Broader (2)
Eye Diseases, Hereditary
Lacrimal Apparatus Diseases
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
K. Koehler
,
Miroslav P. Milev
,
+10 authors
M. Sacher
Journal of Medical Genetics
2016
Corpus ID: 23932418
Background Triple A syndrome (MIM #231550) is associated with mutations in the AAAS gene. However, about 30% of patients with…
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Highly Cited
2013
Highly Cited
2013
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
K. Koehler
,
Meera Malik
,
+30 authors
C. Hübner
American Journal of Human Genetics
2013
Corpus ID: 33577342
Review
2006
Review
2006
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.
U. Inan
,
M. Yılmaz
,
Y. Demir
,
B. Değirmenci
,
S. Ermis
,
F. Ozturk
International Journal of Pediatric…
2006
Corpus ID: 30068007
Highly Cited
2004
Highly Cited
2004
Estimating the age of rare disease mutations: the example of Triple-A syndrome
E. Génin
,
A. Tullio-Pelet
,
F. Begeot
,
S. Lyonnet
,
L. Abel
Journal of Medical Genetics
2004
Corpus ID: 31699756
Triple-A syndrome (MIM 231550) is an autosomal recessive disorder characterised by adrenocorticotrophin hormone resistant adrenal…
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1998
1998
Keratoconjunctivitis sicca associated with achalasia of the cardia, adrenocortical insufficiency, and lacrimal gland degeneration: Keratoconjunctivitis sicca secondary to lacrimal gland degeneration…
P. Mullaney
,
R. Weatherhead
,
+4 authors
J. M. Risco
Ophthalmology (Rochester, Minn.)
1998
Corpus ID: 21070774
1996
1996
Allgrove syndrome: documenting cholinergic dysfunction by autonomic tests.
M. L. Chu
,
D. Berlin
,
F. Axelrod
Jornal de Pediatria
1996
Corpus ID: 1936936
Highly Cited
1987
Highly Cited
1987
Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities.
E. Ehrich
,
G. Aranoff
,
W. Johnson
American journal of medical genetics
1987
Corpus ID: 8101218
We report on two brothers with achalasia, adrenocortical insufficiency, alacrima, short stature, microcephaly, ataxia, optic…
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Highly Cited
1987
Highly Cited
1987
Glucocorticoid insufficiency, achalasia, alacrima with autonomic motor neuropathy.
B. Stuckey
,
F. Mastaglia
,
W. Reed
,
P. Pullan
Annals of Internal Medicine
1987
Corpus ID: 34114763
We report the case of a patient with adrenal disease with achalasia and alacrima, which appear to be part of a widespread defect…
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Highly Cited
1983
Highly Cited
1983
Selective ACTH Insensitivity, Achalasia, and Alacrima: a Multisystem Disorder Presenting in Childhood
M. Geffner
,
B. Lippe
,
+4 authors
Robert Seegan
Pediatric Research
1983
Corpus ID: 6492614
Summary: A 3½-year-old male is described with the rare triad of ACTH insensitivity, achalasia, and alacrima. Adrenal…
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1976
1976
Hereditary congenital alacrima.
B. Mondino
,
S. I. Brown
A M A Archives of Ophthalmology
1976
Corpus ID: 27621334
We describe a family with markedly deficient lacrimation from infancy and punctate corneal epithelial erosions. An autosomal…
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