M-A
MCID: MCR093
MIFTS: 25

Microtia-Anotia (M-A)

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microtia-Anotia

MalaCards integrated aliases for Microtia-Anotia:

Name: Microtia-Anotia 57 53 72
Congenital Absence of External Ear 72
Anotia 59
M-a 53

Characteristics:

Orphanet epidemiological data:

59
anotia
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant vs. multifactorial


HPO:

32
microtia-anotia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600674
MESH via Orphanet 45 C537772
ICD10 via Orphanet 34 Q16.0 Q16.1
UMLS via Orphanet 73 C0702139
Orphanet 59 ORPHA93976
MedGen 42 C1833486
UMLS 72 C0702139 C1833486

Summaries for Microtia-Anotia

OMIM : 57 Microtia-anotia (M-A) can occur either as an isolated defect or in association with other defects. Only in a minority of cases has a genetic or environmental cause been found; in these cases, M-A is usually part of a specific pattern of multiple congenital anomalies. For instance, M-A is an essential component of isotretinoin embryopathy (243440), is an important manifestation of thalidomide embryopathy, and can be part of the prenatal alcohol syndrome and maternal diabetes embryopathy. M-A occurs with a number of single gene disorders, such as Treacher Collins syndrome (154500), branchiotorenal/branchiootic syndromes (see 113650 and 602588), oculoauricular syndrome (612109), microtia with hearing impairment and cleft palate (612290), or chromosomal syndromes, such as trisomy 18. M-A also occurs as part of seemingly nonrandom patterns of multiple defects, such as Goldenhar syndrome (164210) (Mastroiacovo et al., 1995). Alasti and Van Camp (2009) reviewed the genetics of microtia and microtia-associated syndromes and discussed their clinical aspects in relation to the causative genes. They stated that the estimated prevalence of microtia is 0.8 to 4.2 per 10,000 births, that it is more common in males, and that it can have a genetic or environmental predisposition. (600674)

MalaCards based summary : Microtia-Anotia, also known as congenital absence of external ear, is related to anotia facial palsy cardiac defect and microtia. Affiliated tissues include eye and heart, and related phenotypes are microtia and holoprosencephaly

Related Diseases for Microtia-Anotia

Diseases related to Microtia-Anotia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 170)
# Related Disease Score Top Affiliating Genes
1 anotia facial palsy cardiac defect 12.2
2 microtia 11.9
3 craniofacial microsomia 11.7
4 hemifacial microsomia 11.6
5 microtia with meatal atresia and conductive deafness 11.5
6 wisconsin syndrome 11.3
7 fetal thalidomide syndrome 11.2
8 facial paralysis 10.5
9 heart disease 10.4
10 holoprosencephaly 10.4
11 fryns microphthalmia syndrome 10.3
12 polydactyly 10.2
13 cleft palate, isolated 10.1
14 duane retraction syndrome 1 10.1
15 ear malformation 10.1
16 treacher collins syndrome 1 10.1
17 polykaryocytosis inducer 10.1
18 neural tube defects 10.1
19 holoprosencephaly 7 10.1
20 macrostomia, isolated 10.1
21 congenital hypothyroidism 10.1
22 gestational diabetes 10.1
23 hypothyroidism 10.1
24 constipation 10.1
25 cleft lip 10.1
26 cleft tongue 10.1
27 hypotonia 10.1
28 cleft lip/palate 10.1
29 facial cleft 10.1
30 cytokine deficiency 10.0
31 cystic fibrosis 9.9
32 gingivitis 9.9
33 breast cancer 9.8
34 atherosclerosis susceptibility 9.7
35 bladder cancer 9.7
36 pelvic organ prolapse 9.7
37 tetralogy of fallot 9.7
38 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.7
39 proteasome-associated autoinflammatory syndrome 1 9.7
40 prostatic hyperplasia, benign 9.7
41 body mass index quantitative trait locus 1 9.7
42 prostatic hypertrophy 9.7
43 pulmonary edema 9.7
44 leukemia 9.7
45 rectum cancer 9.7
46 prostatic adenoma 9.7
47 liver cirrhosis 9.7
48 pellagra 9.7
49 chickenpox 9.7
50 encephalitis 9.7

Graphical network of the top 20 diseases related to Microtia-Anotia:



Diseases related to Microtia-Anotia

Symptoms & Phenotypes for Microtia-Anotia

Human phenotypes related to Microtia-Anotia:

32
# Description HPO Frequency HPO Source Accession
1 microtia 32 HP:0008551
2 holoprosencephaly 32 HP:0001360
3 anotia 32 HP:0009892

Symptoms via clinical synopsis from OMIM:

57
Ears:
microtia-anotia (m-a)

Misc:
association with holoprosencephaly
higher risk for mothers with insulin-dependent diabetes

Clinical features from OMIM:

600674

Drugs & Therapeutics for Microtia-Anotia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677

Search NIH Clinical Center for Microtia-Anotia

Genetic Tests for Microtia-Anotia

Anatomical Context for Microtia-Anotia

MalaCards organs/tissues related to Microtia-Anotia:

41
Eye, Heart

Publications for Microtia-Anotia

Articles related to Microtia-Anotia:

(show all 23)
# Title Authors PMID Year
1
Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. 38 8
7666397 1995
2
A classic twin study of external ear malformations, including microtia. 8
19759387 2009
3
Genetics of microtia and associated syndromes. 8
19293168 2009
4
Ipsilateral microtia in monozygotic twins: an unusual concordant phenotype. 8
15083051 2004
5
Baha Attract: Our Experience. 38
29238689 2017
6
Isolated Microtia With Anterior Hemispheric Polymicrogyria. 38
25227517 2015
7
Goldenhar syndrome - a case report. 38
25178617 2014
8
Early prenatal exposure to air pollution and its associations with birth defects in a state-wide birth cohort from North Carolina. 38
23897551 2013
9
[Isotretinoin embryopathy with microtia-anotia and congenital heart disease: case report]. 38
22760759 2012
10
Possible multifactorial etiology of isolated microtia/anotia--a population-based study. 38
22227122 2012
11
Microtia-anotia: a global review of prevalence rates. 38
21656661 2011
12
Association of drug treatments in pregnant women with the risk of external ear congenital abnormalities in their offspring: a population-based case-control study. 38
21848996 2011
13
Hospital use and associated costs of children aged zero-to-two years with craniofacial malformations in Massachusetts. 38
19830851 2009
14
Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: possible teratogenic effect. 38
19334090 2009
15
Unilateral microtia in an infant with trisomy 18 mosaicism. 38
19650416 2009
16
Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002. 38
18383510 2008
17
[Prevalence of microtia and anotia at the maternity of the University of Chile Clinical Hospital]. 38
17186100 2006
18
Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. 38
16359491 2005
19
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. 38
14708100 2004
20
Syndromic ear anomalies and renal ultrasounds. 38
11483842 2001
21
Sensitivity, specificity, and positive predictive value of multiple malformations in isotretinoin embryopathy surveillance. 38
2278026 1990
22
Monitoring for multiple malformations in the detection of epidemics of birth defects. 38
3424223 1987
23
Retinoic acid embryopathy. 38
3162101 1985

Variations for Microtia-Anotia

Expression for Microtia-Anotia

Search GEO for disease gene expression data for Microtia-Anotia.

Pathways for Microtia-Anotia

GO Terms for Microtia-Anotia

Sources for Microtia-Anotia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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