Achalasia - microcephaly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr: 929
OMIM Id: 200450
ICD-10: Q39.5
UMLs: C1860212
MeSH: C536010
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndromic esophageal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic esophageal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
2
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
3
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
4
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
5
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0002571) Achalasia Very frequent [Orphanet] 19 / 7739
8
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
9
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
12
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
13
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Williams et al. (1978) described 3 sisters and a brother with microcephaly, mental deficiency, and early onset of symptoms of achalasia. The brother, who died in Mexico at age 4.5 years, had recurrent vomiting (Dumars et al., 1980). ...