MCID: DFN306
MIFTS: 20

Deafness, Conductive, with Malformed External Ear

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

Aliases & Classifications for Deafness, Conductive, with Malformed External Ear

MalaCards integrated aliases for Deafness, Conductive, with Malformed External Ear:

Name: Deafness, Conductive, with Malformed External Ear 56
Mengel-Konigsmark Syndrome 52 58
Conductive Hearing Loss-Malformed External Ear Syndrome 58
Conductive Deafness-Malformed External Ear Syndrome 58
Conductive Hearing Loss and Malformed Low-Set Ears 52
Familial Congenital Moderate Neural Hearing Loss 52
Conductive Deafness with Malformed External Ear 52
Conductive Deafness - Malformed External Ear 52
Ear Deformity and Conductive Hearing Loss 52
Mengel Konigsmark Syndrome 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
deafness, conductive, with malformed external ear:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 221300
UMLS via Orphanet 72 C1857341 C2931454
Orphanet 58 ORPHA3216
MedGen 41 C1857341
UMLS 71 C2931454

Summaries for Deafness, Conductive, with Malformed External Ear

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3216 Definition A very rare, syndromic genetic deafness characterized by mild to moderate conductive hearing loss , dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped, with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. Visit the Orphanet disease page for more resources.

MalaCards based summary : Deafness, Conductive, with Malformed External Ear, also known as mengel-konigsmark syndrome, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and deafness, neural, congenital moderate. Affiliated tissues include skin, and related phenotypes are microtia and low-set ears

More information from OMIM: 221300

Related Diseases for Deafness, Conductive, with Malformed External Ear

Diseases related to Deafness, Conductive, with Malformed External Ear via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
2 deafness, neural, congenital moderate 10.1

Symptoms & Phenotypes for Deafness, Conductive, with Malformed External Ear

Human phenotypes related to Deafness, Conductive, with Malformed External Ear:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
6 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
7 abnormality of the middle ear ossicles 58 31 frequent (33%) Frequent (79-30%) HP:0004452
8 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
9 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
10 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
11 stenosis of the external auditory canal 58 31 occasional (7.5%) Occasional (29-5%) HP:0000402
12 hernia of the abdominal wall 58 31 occasional (7.5%) Occasional (29-5%) HP:0004299
13 abnormality of the pinna 58 31 Occasional (29-5%) HP:0000377
14 intellectual disability 31 HP:0001249

Symptoms via clinical synopsis from OMIM:

56
Endocrine:
hypogonadism

Neuro:
mental retardation

Ears:
conductive hearing loss
malformed ossicles
malformed external ears
low-set external ears

Clinical features from OMIM:

221300

Drugs & Therapeutics for Deafness, Conductive, with Malformed External Ear

Search Clinical Trials , NIH Clinical Center for Deafness, Conductive, with Malformed External Ear

Genetic Tests for Deafness, Conductive, with Malformed External Ear

Anatomical Context for Deafness, Conductive, with Malformed External Ear

MalaCards organs/tissues related to Deafness, Conductive, with Malformed External Ear:

40
Skin

Publications for Deafness, Conductive, with Malformed External Ear

Articles related to Deafness, Conductive, with Malformed External Ear:

# Title Authors PMID Year
1
A new autosomal recessive oto-facial syndrome with midline malformations. 56
15633182 2005
2
Autosomal recessive sensorineural-conductive deafness, mental retardation, and pinna anomalies. 56
624552 1978
3
Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome. 56
5771216 1969
4
Familial congenital moderate neural hearing loss. 61
5428057 1970

Variations for Deafness, Conductive, with Malformed External Ear

Expression for Deafness, Conductive, with Malformed External Ear

Search GEO for disease gene expression data for Deafness, Conductive, with Malformed External Ear.

Pathways for Deafness, Conductive, with Malformed External Ear

GO Terms for Deafness, Conductive, with Malformed External Ear

Sources for Deafness, Conductive, with Malformed External Ear

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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