Disease #00969 (AAAS (achalasia-addisonianism-alacrimia syndrome), OMIM:231550)

Official abbreviation AAAS
Name achalasia-addisonianism-alacrimia syndrome
OMIM ID 231550
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 2 genes AAAS, TMEM48
Associated tissues cerebellum
Disease features adrenal insufficiency, dysphagia/achalasia, no hyporeflexia, developmental delay, alacrima
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-09-28 14:40:08 +02:00 (CEST)


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00410752 FamPat29 PubMed: Macke 2022 4-generation family, affected sister/brother , unaffected heterozygous carrier parents/relatives M - United States - - - - - AAAS see paper; ..., lacrima, achalasia, anejaculation, optic atrophy, muscle weakness, dysarthria, autonomic dysfunction AAAS AAAS 2 1 Johan den Dunnen
00423275 FamIPatI1 PubMed: Yildirim 2022 family, two affected F - Turkey - - - - - AAAS 3y3m-adrenal insufficiency; neonatal onset alacrima; 3y5m-onset achalasia; hyperreflexia, learning disability, muscle weakness, delayed walking, nasal speech, excessive sweating; multiple dental caries, atrophy of the thenar/hypothenar muscles AAAS AAAS 1 2 Johan den Dunnen
00423276 FamIPatI2 PubMed: Yildirim 2022 relative F - Turkey - - - - - AAAS 6y9m-adrenal insufficiency; neonatal onset alacrima; 3y-onset achalasia; learning disability, muscle weakness, delayed walking, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis AAAS AAAS 1 1 Johan den Dunnen
00423277 FamIIPatI1 PubMed: Yildirim 2022 family, two affected F - Turkey - - - - - AAAS 7y2m-adrenal insufficiency; neonatal onset alacrima; muscle weakness, delayed walking, delayed speech; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles AAAS AAAS 1 2 Johan den Dunnen
00423278 FamIIPatI2 PubMed: Yildirim 2022 relative F - Turkey - - - - - AAAS 3y-adrenal insufficiency; neonatal onset alacrima; 3y3m-onset achalasia; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles AAAS AAAS 1 1 Johan den Dunnen
00423279 FamIIIPatI1 PubMed: Yildirim 2022 family, two affected F - Turkey - - - - - AAAS 2y5m-adrenal insufficiency; neonatal onset alacrima; 2y-onset achalasia; excessive sweating; palmoplantar hyperkeratosis, AAAS AAAS 1 2 Johan den Dunnen
00423280 FamIIIPatI2 PubMed: Yildirim 2022 relative F - Turkey - - - - - AAAS neonatal onset alacrima; 1y9m-onset alacrima; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating AAAS AAAS 1 1 Johan den Dunnen
00423281 FamIVPatI1 PubMed: Yildirim 2022 family, two affected M - Turkey - - - - - AAAS 3y-adrenal insufficiency; neonatal onset alacrima; 2y-onset achalasia; hyperreflexia, delayed walking, delayed speech nasal speech, excessive sweating; multiple dental caries, palmoplantar hyperkeratosis, short stature AAAS AAAS 1 2 Johan den Dunnen
00423282 FamIVPatI2 PubMed: Yildirim 2022 relative F - Turkey - - - - - AAAS neonatal onset alacrima; 3y9m-onset alacrima; delayed walking, muscle weakness, delayed speech; multiple dental caries, short stature AAAS AAAS 1 1 Johan den Dunnen
00423283 FamVPatI1 PubMed: Yildirim 2022 family, 1 affected M - Turkey - - - - - AAAS 5y-adrenal insufficiency; neonatal onset alacrima; 9y-onset achalasia; hyperreflexia, muscle weakness, delayed speech, nasal speech, excessive sweating; multiple dental caries, short stature AAAS AAAS 1 1 Johan den Dunnen
00423284 FamVIPatI1 PubMed: Yildirim 2022 family, 1 affected F - Turkey - - - - - AAAS 3y-adrenal insufficiency; neonatal onset alacrima; 4y-onset achalasia; hyperreflexia, learning disability; short stature AAAS AAAS 1 1 Johan den Dunnen
00423285 FamVIIPatI1 PubMed: Yildirim 2022 family, 1 affected M - Turkey - - - - - AAAS 2y7m-adrenal insufficiency; neonatal onset alacrima; hyperreflexia, nasal speech, epilepsy; multiple dental caries, atrophy of the thenar/hypothenar muscles AAAS AAAS 1 1 Johan den Dunnen
00423286 FamVIIIPatI1 PubMed: Yildirim 2022 family, 1 affected M - Turkey - - - - - AAAS 3y-adrenal insufficiency; neonatal onset alacrima; 11y3m-onset achalasia; hyperreflexia, muscle weakness, nasal speech, optic atrophy; multiple dental caries AAAS AAAS 1 1 Johan den Dunnen
00454836 Fam1PatII1 PubMed: Smits 2024 2-generation family, 2 affected (sister/brother), unaffected heterozygous carrier parents F yes - - - - - - AAAS see paper; ..., borderline intellectual disability; motor delay; EMG polyneuropathy; alacrima; dysphagia, recurrent choking; facial weakness; hypotonia; tongue fasciculations; no growth delay; no epilepsy - TMEM48 1 2 Johan den Dunnen
00454837 Fam1PatII2 PubMed: Smits 2024 brother M yes - - - - - - AAAS see paper; ..., borderline intellectual disability; motor delay; EMG polyneuropathy; alacrima; suspect achalasia; facial weakness; hypotonia; tongue fasciculations; no growth delay; no epilepsy - TMEM48 1 1 Johan den Dunnen
00454838 Fam2PatII1 PubMed: Smits 2024 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes - - - - - - AAAS see paper; ..., mild intellectual disability; motor impairment; EMG polyneuropathy; alacrima; no dysphagia/achalasia; facial weakness; tongue fasciculations; growth delay; no epilepsy - TMEM48 1 2 Johan den Dunnen
00454839 Fam2PatII2 PubMed: Smits 2024 sister F yes - - - - - - AAAS see paper; ..., no intellectual disability; motor impairment; polyneuropathy; alacrima; no dysphagia/achalasia; tongue fasciculations; growth delay; no epilepsy - TMEM48 1 1 Johan den Dunnen
00454840 Fam3PatIV1 PubMed: Smits 2024 3-generation family, 2 affected (brother/sister), unaffected heterozygous carrier parents M yes - - - - - - AAAS see paper; ..., moderate intellectual disability; motor impairment; polyneuropathy; achalasia; facial weakness; no tongue fasciculations; growth delay; no epilepsy - TMEM48 1 2 Johan den Dunnen
00454841 Fam3PatIV2 PubMed: Smits 2024 sister F yes - - - - - - AAAS see paper; ..., moderate intellectual disability; motor impairment; polyneuropathy; alacrima; achalasia; facial weakness; hypotonia; no tongue fasciculations; growth delay; epilepsy - TMEM48 1 1 Johan den Dunnen
00454842 Fam4PatII1 PubMed: Smits 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - AAAS see paper; ..., severe intellectual disability; severe motor impairment; no polyneuropathy; no alacrima; dysphagia; hypotonia; no tongue fasciculations; no growth delay; epilepsy - TMEM48 1 1 Johan den Dunnen
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