MCRT
MCID: MCR119
MIFTS: 28

Microtia, Hearing Impairment, and Cleft Palate (MCRT)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Microtia, Hearing Impairment, and Cleft Palate

MalaCards integrated aliases for Microtia, Hearing Impairment, and Cleft Palate:

Name: Microtia, Hearing Impairment, and Cleft Palate 57 72 29 13 6 39
Microtia with or Without Hearing Impairment 57 72 6
Bilateral Microtia-Hearing Loss-Cleft Palate Syndrome 58
Bilateral Microtia-Deafness-Cleft Palate Syndrome 58
Microtia Hearing Impairment and Cleft Palate 36
Microtia Without Hearing Impairment 6
Mhicp 72
Mcrt 72

Characteristics:

Orphanet epidemiological data:

58
bilateral microtia-deafness-cleft palate syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
microtia, hearing impairment, and cleft palate:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 612290
KEGG 36 H01286
MeSH 44 D000013
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C2676772
Orphanet 58 ORPHA140963
MedGen 41 C2676772

Summaries for Microtia, Hearing Impairment, and Cleft Palate

UniProtKB/Swiss-Prot : 72 Microtia with or without hearing impairment: Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule.
Microtia, hearing impairment, and cleft palate: A disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion.

MalaCards based summary : Microtia, Hearing Impairment, and Cleft Palate, also known as microtia with or without hearing impairment, is related to constipation. An important gene associated with Microtia, Hearing Impairment, and Cleft Palate is HOXA2 (Homeobox A2). Affiliated tissues include skin, and related phenotypes are microtia and cleft palate

KEGG : 36 Microtia is a congenital anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occur in conjunction with other abnormalities. The most common associated malformation is the cleft palate. It has been reported that a mutation in the HOXA2 homeobox gene causes microtia, severe hearing impairment, and partial cleft palate.

More information from OMIM: 612290

Related Diseases for Microtia, Hearing Impairment, and Cleft Palate

Diseases related to Microtia, Hearing Impairment, and Cleft Palate via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 constipation 10.0

Symptoms & Phenotypes for Microtia, Hearing Impairment, and Cleft Palate

Human phenotypes related to Microtia, Hearing Impairment, and Cleft Palate:

31
# Description HPO Frequency HPO Source Accession
1 microtia 31 HP:0008551
2 cleft palate 31 HP:0000175
3 mixed hearing impairment 31 HP:0000410

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
microtia
severe narrowing of cartilaginous auditory canal
near-stenosis of bony portion of auditory canal
malformed ossicular chain
incomplete atretic plate
more
Head And Neck Mouth:
cleft palate, partial (in homozygotes)

Clinical features from OMIM®:

612290 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Microtia, Hearing Impairment, and Cleft Palate:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 HOXA1 HOXA2

Drugs & Therapeutics for Microtia, Hearing Impairment, and Cleft Palate

Search Clinical Trials , NIH Clinical Center for Microtia, Hearing Impairment, and Cleft Palate

Genetic Tests for Microtia, Hearing Impairment, and Cleft Palate

Genetic tests related to Microtia, Hearing Impairment, and Cleft Palate:

# Genetic test Affiliating Genes
1 Microtia, Hearing Impairment, and Cleft Palate 29 HOXA2

Anatomical Context for Microtia, Hearing Impairment, and Cleft Palate

MalaCards organs/tissues related to Microtia, Hearing Impairment, and Cleft Palate:

40
Skin

Publications for Microtia, Hearing Impairment, and Cleft Palate

Articles related to Microtia, Hearing Impairment, and Cleft Palate:

# Title Authors PMID Year
1
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. 6 57
27503514 2017
2
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. 6 57
23775976 2013
3
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. 6 57
18394579 2008
4
Identification of loss-of-function HOXA2 mutations in Chinese families with dominant bilateral microtia. 61
32649979 2020

Variations for Microtia, Hearing Impairment, and Cleft Palate

ClinVar genetic disease variations for Microtia, Hearing Impairment, and Cleft Palate:

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXA2 NM_006735.4(HOXA2):c.703C>T (p.Gln235Ter) SNV Pathogenic 88845 rs398122360 GRCh37: 7:27140773-27140773
GRCh38: 7:27101154-27101154
2 HOXA2 NM_006735.4(HOXA2):c.670G>T (p.Glu224Ter) SNV Pathogenic 522589 rs1554334301 GRCh37: 7:27140806-27140806
GRCh38: 7:27101187-27101187
3 HOXA2 NM_006735.4(HOXA2):c.556C>A (p.Gln186Lys) SNV Pathogenic 5407 rs119489104 GRCh37: 7:27140920-27140920
GRCh38: 7:27101301-27101301
4 HOXA2 NM_006735.4(HOXA2):c.*166A>G SNV Uncertain significance 359976 rs886062265 GRCh37: 7:27140179-27140179
GRCh38: 7:27100560-27100560
5 HOXA2 NM_006735.4(HOXA2):c.1005G>A (p.Gln335=) SNV Uncertain significance 359979 rs779536985 GRCh37: 7:27140471-27140471
GRCh38: 7:27100852-27100852
6 HOXA2 NM_006735.4(HOXA2):c.394T>A (p.Ser132Thr) SNV Uncertain significance 359982 rs139504171 GRCh37: 7:27141082-27141082
GRCh38: 7:27101463-27101463
7 HOXA2 NM_006735.4(HOXA2):c.*214C>A SNV Uncertain significance 359974 rs780153422 GRCh37: 7:27140131-27140131
GRCh38: 7:27100512-27100512
8 HOXA2 NM_006735.4(HOXA2):c.389A>G (p.Lys130Arg) SNV Uncertain significance 359983 rs886062266 GRCh37: 7:27141731-27141731
GRCh38: 7:27102112-27102112
9 HOXA2 NM_006735.4(HOXA2):c.807C>A (p.Ser269=) SNV Uncertain significance 359980 rs141931321 GRCh37: 7:27140669-27140669
GRCh38: 7:27101050-27101050
10 HOXA2 NM_006735.4(HOXA2):c.-136A>G SNV Uncertain significance 359986 rs546333732 GRCh37: 7:27142255-27142255
GRCh38: 7:27102636-27102636
11 HOXA2 NM_006735.4(HOXA2):c.*210A>T SNV Uncertain significance 359975 rs886062264 GRCh37: 7:27140135-27140135
GRCh38: 7:27100516-27100516
12 HOXA2 NM_006735.4(HOXA2):c.*357T>C SNV Uncertain significance 359972 rs886062263 GRCh37: 7:27139988-27139988
GRCh38: 7:27100369-27100369
13 HOXA2 NM_006735.4(HOXA2):c.*30A>G SNV Uncertain significance 359978 rs200775678 GRCh37: 7:27140315-27140315
GRCh38: 7:27100696-27100696
14 HOXA2 NM_006735.4(HOXA2):c.-57C>T SNV Uncertain significance 359984 rs191710586 GRCh37: 7:27142176-27142176
GRCh38: 7:27102557-27102557
15 HOXA2 NM_006735.4(HOXA2):c.420C>T (p.Gly140=) SNV Uncertain significance 359981 rs748975641 GRCh37: 7:27141056-27141056
GRCh38: 7:27101437-27101437
16 HOXA2 NM_006735.4(HOXA2):c.-140T>C SNV Uncertain significance 359987 rs886062267 GRCh37: 7:27142259-27142259
GRCh38: 7:27102640-27102640
17 HOXA2 NM_006735.4(HOXA2):c.707C>A (p.Ala236Asp) SNV Uncertain significance 908609 GRCh37: 7:27140769-27140769
GRCh38: 7:27101150-27101150
18 HOXA2 NM_006735.4(HOXA2):c.352A>G (p.Thr118Ala) SNV Uncertain significance 908610 GRCh37: 7:27141768-27141768
GRCh38: 7:27102149-27102149
19 HOXA2 NM_006735.4(HOXA2):c.338C>T (p.Ala113Val) SNV Uncertain significance 908611 GRCh37: 7:27141782-27141782
GRCh38: 7:27102163-27102163
20 HOXA2 NM_006735.4(HOXA2):c.333G>A (p.Pro111=) SNV Uncertain significance 909466 GRCh37: 7:27141787-27141787
GRCh38: 7:27102168-27102168
21 HOXA2 NM_006735.4(HOXA2):c.201C>T (p.His67=) SNV Uncertain significance 909467 GRCh37: 7:27141919-27141919
GRCh38: 7:27102300-27102300
22 HOXA2 NM_006735.4(HOXA2):c.80C>G (p.Pro27Arg) SNV Uncertain significance 909468 GRCh37: 7:27142040-27142040
GRCh38: 7:27102421-27102421
23 HOXA2 NM_006735.4(HOXA2):c.15T>A (p.Phe5Leu) SNV Uncertain significance 909469 GRCh37: 7:27142105-27142105
GRCh38: 7:27102486-27102486
24 HOXA2 NM_006735.4(HOXA2):c.-18G>A SNV Uncertain significance 909470 GRCh37: 7:27142137-27142137
GRCh38: 7:27102518-27102518
25 HOXA2 NM_006735.4(HOXA2):c.*338T>C SNV Uncertain significance 910350 GRCh37: 7:27140007-27140007
GRCh38: 7:27100388-27100388
26 HOXA2 NM_006735.4(HOXA2):c.*209T>C SNV Uncertain significance 910351 GRCh37: 7:27140136-27140136
GRCh38: 7:27100517-27100517
27 HOXA2 NM_006735.4(HOXA2):c.*193G>C SNV Uncertain significance 910352 GRCh37: 7:27140152-27140152
GRCh38: 7:27100533-27100533
28 HOXA2 NM_006735.4(HOXA2):c.*65T>C SNV Uncertain significance 911560 GRCh37: 7:27140280-27140280
GRCh38: 7:27100661-27100661
29 HOXA2 NM_006735.4(HOXA2):c.1065A>G (p.Ser355=) SNV Uncertain significance 911561 GRCh37: 7:27140411-27140411
GRCh38: 7:27100792-27100792
30 HOXA2 NM_006735.4(HOXA2):c.979G>A (p.Val327Ile) SNV Uncertain significance 911562 GRCh37: 7:27140497-27140497
GRCh38: 7:27100878-27100878
31 HOXA2 NM_006735.4(HOXA2):c.970G>A (p.Asp324Asn) SNV Uncertain significance 911563 GRCh37: 7:27140506-27140506
GRCh38: 7:27100887-27100887
32 HOXA2 NM_006735.4(HOXA2):c.519G>A (p.Arg173=) SNV Uncertain significance 70654 GRCh37: 7:27140957-27140957
GRCh38: 7:27101338-27101338
33 HOXA2 NM_006735.3(HOXA2):c.-193T>C SNV Uncertain significance 359988 rs886062268 GRCh37: 7:27142312-27142312
GRCh38: 7:27102693-27102693
34 HOXA2 NM_006735.3(HOXA2):c.-215T>C SNV Uncertain significance 359989 rs566719577 GRCh37: 7:27142334-27142334
GRCh38: 7:27102715-27102715
35 HOXA2 NC_000007.14:g.27100341G>A SNV Uncertain significance 910349 GRCh37: 7:27139960-27139960
GRCh38: 7:27100341-27100341
36 HOXA2 NM_006735.4(HOXA2):c.1006C>G (p.Leu336Val) SNV Uncertain significance 1033141 GRCh37: 7:27140470-27140470
GRCh38: 7:27100851-27100851
37 HOXA2 , HOXA1 NM_005522.4(HOXA1):c.436C>A (p.His146Asn) SNV Likely benign 359962 rs45571645 GRCh37: 7:27135096-27135096
GRCh38: 7:27095477-27095477
38 HOXA2 , HOXA1 NM_005522.4(HOXA1):c.213C>T (p.His71=) SNV Likely benign 359966 rs2074398 GRCh37: 7:27135319-27135319
GRCh38: 7:27095700-27095700
39 HOXA1 , HOXA2 NM_006735.4(HOXA2):c.*108C>T SNV Likely benign 359977 rs117630421 GRCh37: 7:27140237-27140237
GRCh38: 7:27100618-27100618
40 HOXA2 NM_006735.4(HOXA2):c.-58C>G SNV Likely benign 359985 rs143688829 GRCh37: 7:27142177-27142177
GRCh38: 7:27102558-27102558
41 HOXA2 , HOXA1 NM_005522.4(HOXA1):c.216_218del (p.His74del) Deletion Likely benign 369584 rs368428758 GRCh37: 7:27135314-27135316
GRCh38: 7:27095695-27095697
42 HOXA2 , HOXA1 NM_005522.4(HOXA1):c.218= (p.His73=) SNV Benign 369585 rs10951154 GRCh37: 7:27135314-27135314
GRCh38: 7:27095695-27095695
43 HOXA2 NM_006735.4(HOXA2):c.*316T>C SNV Benign 359973 rs141414600 GRCh37: 7:27140029-27140029
GRCh38: 7:27100410-27100410

UniProtKB/Swiss-Prot genetic disease variations for Microtia, Hearing Impairment, and Cleft Palate:

72
# Symbol AA change Variation ID SNP ID
1 HOXA2 p.Gln186Lys VAR_048023 rs119489104

Expression for Microtia, Hearing Impairment, and Cleft Palate

Search GEO for disease gene expression data for Microtia, Hearing Impairment, and Cleft Palate.

Pathways for Microtia, Hearing Impairment, and Cleft Palate

GO Terms for Microtia, Hearing Impairment, and Cleft Palate

Molecular functions related to Microtia, Hearing Impairment, and Cleft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 8.96 HOXA2 HOXA1
2 sequence-specific DNA binding GO:0043565 8.62 HOXA2 HOXA1

Sources for Microtia, Hearing Impairment, and Cleft Palate

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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