MCID: ERM001
MIFTS: 20

Ermine Phenotype

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ermine Phenotype

MalaCards integrated aliases for Ermine Phenotype:

Name: Ermine Phenotype 57 20 58 70
Pigmentary Disorder with Hearing Loss 57 20 58
O'doherty Syndrome 20 58
Pigmentary Disorder with Deafness 58

Characteristics:

Orphanet epidemiological data:

58
ermine phenotype
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
ermine phenotype:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 227010
MESH via Orphanet 45 C535508
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 71 C1856899
Orphanet 58 ORPHA999
MedGen 41 C1856899
UMLS 70 C1856899

Summaries for Ermine Phenotype

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 999 Definition Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease.

MalaCards based summary : Ermine Phenotype, also known as pigmentary disorder with hearing loss, is related to branchiootic syndrome 1 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. Related phenotypes are sensorineural hearing impairment and hypopigmentation of hair

More information from OMIM: 227010

Related Diseases for Ermine Phenotype

Diseases related to Ermine Phenotype via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.0
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
3 sensorineural hearing loss 10.0
4 microcephaly 10.0

Symptoms & Phenotypes for Ermine Phenotype

Human phenotypes related to Ermine Phenotype:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
3 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 irregular hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007400
7 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
8 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
9 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
10 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
11 abnormality of the nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000366
12 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
13 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
14 ocular albinism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001107
15 hypotonia 31 occasional (7.5%) HP:0001252
16 muscular hypotonia 58 Occasional (29-5%)
17 vitiligo 31 HP:0001045
18 white hair 31 HP:0011364
19 white eyebrow 31 HP:0002226
20 white eyelashes 31 HP:0002227
21 iris hypopigmentation 58 Occasional (29-5%)
22 spotty hyperpigmentation 31 HP:0005585
23 albinism 31 HP:0001022

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
vitiligo
patchy depigmentation

Neuro:
mild mental retardation

H E E N T:
sensorineural hearing loss
normal iris pigmentation

Hair:
white hair with scattered black tufts
white eyebrows and eyelashes

Clinical features from OMIM®:

227010 (Updated 20-May-2021)

Drugs & Therapeutics for Ermine Phenotype

Search Clinical Trials , NIH Clinical Center for Ermine Phenotype

Genetic Tests for Ermine Phenotype

Anatomical Context for Ermine Phenotype

Publications for Ermine Phenotype

Articles related to Ermine Phenotype:

# Title Authors PMID Year
1
Phenotypic and microscopic description of a new case of Ermine phenotype. 61 57
19449401 2009
2
The ermine phenotype: pigmentary-hearing loss heterogeneity. 57 61
3055988 1988
3
Depigmentations of the general and oral tissues and their genetic foundations. 57
397773 1979

Variations for Ermine Phenotype

Expression for Ermine Phenotype

Search GEO for disease gene expression data for Ermine Phenotype.

Pathways for Ermine Phenotype

GO Terms for Ermine Phenotype

Sources for Ermine Phenotype

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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