MCID: DFN306
MIFTS: 18

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 58
Mengel-Konigsmark Syndrome 54 60
Conductive Hearing Loss-Malformed External Ear Syndrome 60
Conductive Deafness-Malformed External Ear Syndrome 60
Conductive Hearing Loss and Malformed Low-Set Ears 54
Familial Congenital Moderate Neural Hearing Loss 54
Conductive Deafness with Malformed External Ear 54
Conductive Deafness - Malformed External Ear 54
Ear Deformity and Conductive Hearing Loss 54
Mengel Konigsmark Syndrome 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
deafness, conductive, with malformed external ear:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 221300
UMLS via Orphanet 75 C1857341 C2931454
Orphanet 60 ORPHA3216
MedGen 43 C1857341
UMLS 74 C2931454

Summaries for Deafness, Conductive, with Malformed External Ear

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3216Disease definitionA 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, is also known as mengel-konigsmark syndrome. Affiliated tissues include skin, and related phenotypes are low-set ears and microtia

Description from OMIM: 221300

Related Diseases for Deafness, Conductive, with Malformed External Ear

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

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

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
3 conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000405
4 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
5 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
6 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
7 overfolded helix 60 33 frequent (33%) Frequent (79-30%) HP:0000396
8 abnormality of the middle ear ossicles 60 33 frequent (33%) Frequent (79-30%) HP:0004452
9 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
10 hernia of the abdominal wall 60 33 occasional (7.5%) Occasional (29-5%) HP:0004299
11 preauricular skin tag 60 33 occasional (7.5%) Occasional (29-5%) HP:0000384
12 stenosis of the external auditory canal 60 33 occasional (7.5%) Occasional (29-5%) HP:0000402
13 abnormality of the pinna 60 33 Occasional (29-5%) HP:0000377
14 intellectual disability 33 HP:0001249

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Deafness, Conductive, with Malformed External Ear

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
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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