MCID: MCR093
MIFTS: 29

Microtia-Anotia

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microtia-Anotia

MalaCards integrated aliases for Microtia-Anotia:

Name: Microtia-Anotia 58 54 74
Congenital Absence of External Ear 74
Anotia 60
M-a 54

Characteristics:

Orphanet epidemiological data:

60
anotia
Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant vs. multifactorial


HPO:

33
microtia-anotia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 600674
MESH via Orphanet 46 C537772
ICD10 via Orphanet 35 Q16.0 Q16.1
UMLS via Orphanet 75 C0702139
Orphanet 60 ORPHA93976
MedGen 43 C1833486

Summaries for Microtia-Anotia

OMIM : 58 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. The drugs Hydroxocobalamin and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include prostate, myeloid and bone, 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 83)
# Related Disease Score Top Affiliating Genes
1 anotia facial palsy cardiac defect 12.1
2 microtia 11.8
3 hemifacial microsomia 11.4
4 microtia with meatal atresia and conductive deafness 11.4
5 wisconsin syndrome 11.1
6 craniofacial microsomia 11.1
7 fetal thalidomide syndrome 11.1
8 facial paralysis 10.4
9 heart disease 10.2
10 fryns microphthalmia syndrome 10.0
11 polydactyly 10.0
12 macrostomia, isolated 10.0
13 congenital hypothyroidism 10.0
14 hypothyroidism 10.0
15 cleft lip 10.0
16 cleft tongue 10.0
17 fetal retinoid syndrome 10.0
18 cleft lip/palate 10.0
19 isotretinoin syndrome 10.0
20 breast cancer 9.7
21 gingivitis 9.7
22 pelvic organ prolapse 9.7
23 tetralogy of fallot 9.7
24 cystic fibrosis 9.7
25 body mass index quantitative trait locus 11 9.7
26 aging 9.7
27 prostatic hyperplasia, benign 9.7
28 body mass index quantitative trait locus 8 9.7
29 body mass index quantitative trait locus 10 9.7
30 body mass index quantitative trait locus 7 9.7
31 body mass index quantitative trait locus 14 9.7
32 body mass index quantitative trait locus 18 9.7
33 body mass index quantitative trait locus 19 9.7
34 prostatic adenoma 9.7
35 pellagra 9.7
36 encephalitis 9.7
37 xp22.3 microdeletion syndrome 9.7
38 alzheimer disease 9.5
39 behcet syndrome 9.5
40 blood group--wright antigen 9.5
41 ichthyosis bullosa of siemens 9.5
42 lipomatosis, multiple 9.5
43 spondylolisthesis 9.5
44 fanconi anemia, complementation group a 9.5
45 hemophilia b 9.5
46 melnick-needles syndrome 9.5
47 leukemia, acute myeloid 9.5
48 mycobacterium tuberculosis 1 9.5
49 blood group, junior system 9.5
50 congenital methemoglobinemia 9.5

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:

33
# Description HPO Frequency HPO Source Accession
1 microtia 33 HP:0008551
2 holoprosencephaly 33 HP:0001360
3 anotia 33 HP:0009892

Symptoms via clinical synopsis from OMIM:

58
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

Drugs for Microtia-Anotia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
2
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
3
leucovorin Approved Not Applicable 58-05-9 143 6006
4
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
5
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
6
Cobalamin Experimental Not Applicable 13408-78-1 6857388
7 Pharmaceutical Solutions Not Applicable
8 Vitamin B9 Not Applicable
9 Vitamin B Complex Not Applicable
10 Nutrients Not Applicable
11 Trace Elements Not Applicable
12 Vitamin B12 Not Applicable
13 Micronutrients Not Applicable
14 Folate Not Applicable
15 Vitamins Not Applicable
16 Vitamin B 12 Not Applicable
17 Hematinics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
2 Use of Platelet-enriched Plasma During Auricular Reconstruction Recruiting NCT03215979 Not Applicable
3 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects Recruiting NCT03725878 Not Applicable

Search NIH Clinical Center for Microtia-Anotia

Genetic Tests for Microtia-Anotia

Anatomical Context for Microtia-Anotia

MalaCards organs/tissues related to Microtia-Anotia:

42
Prostate, Myeloid, Bone, Heart, Tongue, Breast, Thyroid

Publications for Microtia-Anotia

Articles related to Microtia-Anotia:

# Title Authors Year
1
Possible multifactorial etiology of isolated microtia/anotia--a population-based study. ( 22227122 )
2012
2
Microtia-anotia: a global review of prevalence rates. ( 21656661 )
2011
3
Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. ( 7666397 )
1995

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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