MCID: DFN306
MIFTS: 19

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 57
Mengel-Konigsmark Syndrome 53 59
Conductive Hearing Loss-Malformed External Ear Syndrome 59
Conductive Deafness-Malformed External Ear Syndrome 59
Conductive Hearing Loss and Malformed Low-Set Ears 53
Familial Congenital Moderate Neural Hearing Loss 53
Conductive Deafness with Malformed External Ear 53
Conductive Deafness - Malformed External Ear 53
Ear Deformity and Conductive Hearing Loss 53
Mengel Konigsmark Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
deafness, conductive, with malformed external ear:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 221300
Orphanet 59 ORPHA3216
UMLS via Orphanet 74 C2931454 C1857341
MedGen 42 C1857341
UMLS 73 C2931454

Summaries for Deafness, Conductive, with Malformed External Ear

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 high palate

Description from OMIM: 221300

Related Diseases for Deafness, Conductive, with Malformed External Ear

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

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
hypogonadism

Neuro:
mental retardation

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


Clinical features from OMIM:

221300

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

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
4 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
5 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
6 abnormality of the pinna 59 32 Occasional (29-5%) HP:0000377
7 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
8 hernia of the abdominal wall 59 32 occasional (7.5%) Occasional (29-5%) HP:0004299
9 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
10 overfolded helix 59 32 frequent (33%) Frequent (79-30%) HP:0000396
11 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
12 stenosis of the external auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0000402
13 abnormality of the middle ear ossicles 59 32 frequent (33%) Frequent (79-30%) HP:0004452
14 intellectual disability 32 HP:0001249

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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