MCID: MCR119
MIFTS: 20

Microtia, Hearing Impairment, and Cleft Palate

Categories: Genetic diseases, Ear diseases, Fetal 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 75 29 13 6 40
Microtia with or Without Hearing Impairment 57 75 6
Bilateral Microtia-Deafness-Cleft Palate Syndrome 59
Microtia Hearing Impairment and Cleft Palate 37
Microtia Without Hearing Impairment 6
Mhicp 75
Mcrt 75

Characteristics:

Orphanet epidemiological data:

59
bilateral microtia-deafness-cleft palate syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive


HPO:

32
microtia, hearing impairment, and cleft palate:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612290
Orphanet 59 ORPHA140963
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 74 C2676772
MedGen 42 C2676772
MeSH 44 D000013
KEGG 37 H01286

Summaries for Microtia, Hearing Impairment, and Cleft Palate

UniProtKB/Swiss-Prot : 75 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, is also known as microtia with or without hearing impairment. An important gene associated with Microtia, Hearing Impairment, and Cleft Palate is HOXA2 (Homeobox A2). Affiliated tissues include skin, and related phenotypes are cleft palate and mixed hearing impairment

Description from OMIM: 612290

Related Diseases for Microtia, Hearing Impairment, and Cleft Palate

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 mixed hearing impairment 32 HP:0000410
3 microtia 32 HP:0008551

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:

41
Skin

Publications for Microtia, Hearing Impairment, and Cleft Palate

Variations for Microtia, Hearing Impairment, and Cleft Palate

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

75
# Symbol AA change Variation ID SNP ID
1 HOXA2 p.Gln186Lys VAR_048023 rs119489104

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

6
(show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXA2 NM_006735.3(HOXA2): c.556C> A (p.Gln186Lys) single nucleotide variant Pathogenic rs119489104 GRCh37 Chromosome 7, 27140920: 27140920
2 HOXA2 NM_006735.3(HOXA2): c.556C> A (p.Gln186Lys) single nucleotide variant Pathogenic rs119489104 GRCh38 Chromosome 7, 27101301: 27101301
3 HOXA2 NM_006735.3(HOXA2): c.703C> T (p.Gln235Ter) single nucleotide variant Pathogenic rs398122360 GRCh37 Chromosome 7, 27140773: 27140773
4 HOXA2 NM_006735.3(HOXA2): c.703C> T (p.Gln235Ter) single nucleotide variant Pathogenic rs398122360 GRCh38 Chromosome 7, 27101154: 27101154
5 HOXA2 NM_006735.3(HOXA2): c.*316T> C single nucleotide variant Uncertain significance rs141414600 GRCh37 Chromosome 7, 27140029: 27140029
6 HOXA2 NM_006735.3(HOXA2): c.*316T> C single nucleotide variant Uncertain significance rs141414600 GRCh38 Chromosome 7, 27100410: 27100410
7 HOXA2 NM_006735.3(HOXA2): c.*214C> A single nucleotide variant Uncertain significance rs780153422 GRCh37 Chromosome 7, 27140131: 27140131
8 HOXA2 NM_006735.3(HOXA2): c.*214C> A single nucleotide variant Uncertain significance rs780153422 GRCh38 Chromosome 7, 27100512: 27100512
9 HOXA1; HOXA2 NM_006735.3(HOXA2): c.*108C> T single nucleotide variant Likely benign rs117630421 GRCh37 Chromosome 7, 27140237: 27140237
10 HOXA1; HOXA2 NM_006735.3(HOXA2): c.*108C> T single nucleotide variant Likely benign rs117630421 GRCh38 Chromosome 7, 27100618: 27100618
11 HOXA2 NM_006735.3(HOXA2): c.*30A> G single nucleotide variant Uncertain significance rs200775678 GRCh37 Chromosome 7, 27140315: 27140315
12 HOXA2 NM_006735.3(HOXA2): c.*30A> G single nucleotide variant Uncertain significance rs200775678 GRCh38 Chromosome 7, 27100696: 27100696
13 HOXA2 NM_006735.3(HOXA2): c.-58C> G single nucleotide variant Uncertain significance rs143688829 GRCh37 Chromosome 7, 27142177: 27142177
14 HOXA2 NM_006735.3(HOXA2): c.-58C> G single nucleotide variant Uncertain significance rs143688829 GRCh38 Chromosome 7, 27102558: 27102558
15 HOXA1; HOXA2 NM_005522.4(HOXA1): c.436C> A (p.His146Asn) single nucleotide variant Likely benign rs45571645 GRCh37 Chromosome 7, 27135096: 27135096
16 HOXA1; HOXA2 NM_005522.4(HOXA1): c.436C> A (p.His146Asn) single nucleotide variant Likely benign rs45571645 GRCh38 Chromosome 7, 27095477: 27095477
17 HOXA1; HOXA2 NM_005522.4(HOXA1): c.213C> T (p.His71=) single nucleotide variant Likely benign rs2074398 GRCh37 Chromosome 7, 27135319: 27135319
18 HOXA1; HOXA2 NM_005522.4(HOXA1): c.213C> T (p.His71=) single nucleotide variant Likely benign rs2074398 GRCh38 Chromosome 7, 27095700: 27095700
19 HOXA2 NM_006735.3(HOXA2): c.420C> T (p.Gly140=) single nucleotide variant Uncertain significance rs748975641 GRCh37 Chromosome 7, 27141056: 27141056
20 HOXA2 NM_006735.3(HOXA2): c.420C> T (p.Gly140=) single nucleotide variant Uncertain significance rs748975641 GRCh38 Chromosome 7, 27101437: 27101437
21 HOXA2 NM_006735.3(HOXA2): c.-136A> G single nucleotide variant Uncertain significance rs546333732 GRCh38 Chromosome 7, 27102636: 27102636
22 HOXA2 NM_006735.3(HOXA2): c.-136A> G single nucleotide variant Uncertain significance rs546333732 GRCh37 Chromosome 7, 27142255: 27142255
23 HOXA2 NM_006735.3(HOXA2): c.-193T> C single nucleotide variant Uncertain significance rs886062268 GRCh38 Chromosome 7, 27102693: 27102693
24 HOXA2 NM_006735.3(HOXA2): c.-193T> C single nucleotide variant Uncertain significance rs886062268 GRCh37 Chromosome 7, 27142312: 27142312
25 HOXA2 NM_006735.3(HOXA2): c.-215T> C single nucleotide variant Uncertain significance rs566719577 GRCh38 Chromosome 7, 27102715: 27102715
26 HOXA2 NM_006735.3(HOXA2): c.-215T> C single nucleotide variant Uncertain significance rs566719577 GRCh37 Chromosome 7, 27142334: 27142334
27 HOXA2 NM_006735.3(HOXA2): c.*357T> C single nucleotide variant Uncertain significance rs886062263 GRCh37 Chromosome 7, 27139988: 27139988
28 HOXA2 NM_006735.3(HOXA2): c.*357T> C single nucleotide variant Uncertain significance rs886062263 GRCh38 Chromosome 7, 27100369: 27100369
29 HOXA2 NM_006735.3(HOXA2): c.1005G> A (p.Gln335=) single nucleotide variant Uncertain significance rs779536985 GRCh37 Chromosome 7, 27140471: 27140471
30 HOXA2 NM_006735.3(HOXA2): c.1005G> A (p.Gln335=) single nucleotide variant Uncertain significance rs779536985 GRCh38 Chromosome 7, 27100852: 27100852
31 HOXA2 NM_006735.3(HOXA2): c.807C> A (p.Ser269=) single nucleotide variant Uncertain significance rs141931321 GRCh37 Chromosome 7, 27140669: 27140669
32 HOXA2 NM_006735.3(HOXA2): c.807C> A (p.Ser269=) single nucleotide variant Uncertain significance rs141931321 GRCh38 Chromosome 7, 27101050: 27101050
33 HOXA2 NM_006735.3(HOXA2): c.394T> A (p.Ser132Thr) single nucleotide variant Uncertain significance rs139504171 GRCh37 Chromosome 7, 27141082: 27141082
34 HOXA2 NM_006735.3(HOXA2): c.394T> A (p.Ser132Thr) single nucleotide variant Uncertain significance rs139504171 GRCh38 Chromosome 7, 27101463: 27101463
35 HOXA2 NM_006735.3(HOXA2): c.-57C> T single nucleotide variant Uncertain significance rs191710586 GRCh37 Chromosome 7, 27142176: 27142176
36 HOXA2 NM_006735.3(HOXA2): c.-57C> T single nucleotide variant Uncertain significance rs191710586 GRCh38 Chromosome 7, 27102557: 27102557
37 HOXA2 NM_006735.3(HOXA2): c.-140T> C single nucleotide variant Uncertain significance rs886062267 GRCh38 Chromosome 7, 27102640: 27102640
38 HOXA2 NM_006735.3(HOXA2): c.-140T> C single nucleotide variant Uncertain significance rs886062267 GRCh37 Chromosome 7, 27142259: 27142259
39 HOXA2 NM_006735.3(HOXA2): c.*210A> T single nucleotide variant Uncertain significance rs886062264 GRCh37 Chromosome 7, 27140135: 27140135
40 HOXA2 NM_006735.3(HOXA2): c.*210A> T single nucleotide variant Uncertain significance rs886062264 GRCh38 Chromosome 7, 27100516: 27100516
41 HOXA2 NM_006735.3(HOXA2): c.*166A> G single nucleotide variant Uncertain significance rs886062265 GRCh37 Chromosome 7, 27140179: 27140179
42 HOXA2 NM_006735.3(HOXA2): c.*166A> G single nucleotide variant Uncertain significance rs886062265 GRCh38 Chromosome 7, 27100560: 27100560
43 HOXA2 NM_006735.3(HOXA2): c.389A> G (p.Lys130Arg) single nucleotide variant Uncertain significance rs886062266 GRCh37 Chromosome 7, 27141731: 27141731
44 HOXA2 NM_006735.3(HOXA2): c.389A> G (p.Lys130Arg) single nucleotide variant Uncertain significance rs886062266 GRCh38 Chromosome 7, 27102112: 27102112
45 HOXA2 NC_000007.14: g.27095695_27095697delCGA deletion Likely benign rs368428758 GRCh37 Chromosome 7, 27135314: 27135316
46 HOXA2 NC_000007.14: g.27095695_27095697delCGA deletion Likely benign rs368428758 GRCh38 Chromosome 7, 27095695: 27095697
47 HOXA2 NC_000007.14: g.27095695C> T single nucleotide variant Benign rs10951154 GRCh37 Chromosome 7, 27135314: 27135314
48 HOXA2 NC_000007.14: g.27095695C> T single nucleotide variant Benign rs10951154 GRCh38 Chromosome 7, 27095695: 27095695
49 HOXA2 NM_006735.3(HOXA2): c.670G> T (p.Glu224Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 27140806: 27140806
50 HOXA2 NM_006735.3(HOXA2): c.670G> T (p.Glu224Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 27101187: 27101187

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

Sources for Microtia, Hearing Impairment, and Cleft Palate

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74 UMLS via Orphanet
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