MCID: ACH039
MIFTS: 21

Achalasia-Microcephaly Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Achalasia-Microcephaly Syndrome

MalaCards integrated aliases for Achalasia-Microcephaly Syndrome:

Name: Achalasia-Microcephaly Syndrome 56 12 58
Achalasia Microcephaly 12 74 43 71
Achalasia Microcephaly Syndrome 12 52

Characteristics:

Orphanet epidemiological data:

58
achalasia-microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
achalasia-microcephaly syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050796
OMIM 56 200450
MeSH 43 C536010
SNOMED-CT 67 718573009
MESH via Orphanet 44 C536010
ICD10 via Orphanet 33 Q39.5
UMLS via Orphanet 72 C1860212
Orphanet 58 ORPHA929
MedGen 41 C1860212
UMLS 71 C1860212

Summaries for Achalasia-Microcephaly Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 929 Definition An extremely rare genetic syndrome characterized by the association of microcephaly , intellectual deficit and achalasia (with symptoms of coughing, dysphagia , vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. Visit the Orphanet disease page for more resources.

MalaCards based summary : Achalasia-Microcephaly Syndrome, also known as achalasia microcephaly, is related to microcephaly and achalasia. Related phenotypes are intellectual disability and mandibular prognathia

Disease Ontology : 12 A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).

Wikipedia : 74 Achalasia microcephaly syndrome is a rare condition whereby achalasia in the oesophagus manifests... more...

More information from OMIM: 200450

Related Diseases for Achalasia-Microcephaly Syndrome

Diseases related to Achalasia-Microcephaly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 10.3
2 achalasia 10.3

Symptoms & Phenotypes for Achalasia-Microcephaly Syndrome

Human phenotypes related to Achalasia-Microcephaly Syndrome:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
5 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
6 achalasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002571
7 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
8 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
9 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
10 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
11 hirsutism 31 very rare (1%) HP:0001007
12 esotropia 31 very rare (1%) HP:0000565

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability

Abdomen Gastrointestinal:
achalasia

Skin Nails Hair Hair:
hirsutism (1 patient)

Head And Neck Head:
microcephaly

Head And Neck Eyes:
esotropia (1 patient)
synophrys, partial (1 patient)

Clinical features from OMIM:

200450

Drugs & Therapeutics for Achalasia-Microcephaly Syndrome

Search Clinical Trials , NIH Clinical Center for Achalasia-Microcephaly Syndrome

Cochrane evidence based reviews: achalasia microcephaly

Genetic Tests for Achalasia-Microcephaly Syndrome

Anatomical Context for Achalasia-Microcephaly Syndrome

Publications for Achalasia-Microcephaly Syndrome

Articles related to Achalasia-Microcephaly Syndrome:

# Title Authors PMID Year
1
Achalasia-microcephaly syndrome: a further case report. 56 61
28471776 2017
2
Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition. 61 56
2591072 1989
3
Familial achalasia, microcephaly, and mental retardation. Case report and review of literature. 61 56
3048841 1988
4
Achalasia and microcephaly. 61 56
7211947 1980
5
Familial achalasia. 56
5435950 1970
6
Another case of achalasia-microcephaly syndrome. 61
10532181 1999

Variations for Achalasia-Microcephaly Syndrome

Expression for Achalasia-Microcephaly Syndrome

Search GEO for disease gene expression data for Achalasia-Microcephaly Syndrome.

Pathways for Achalasia-Microcephaly Syndrome

GO Terms for Achalasia-Microcephaly Syndrome

Sources for Achalasia-Microcephaly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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