MCID: ERM001
MIFTS: 21

Ermine Phenotype

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ermine Phenotype

MalaCards integrated aliases for Ermine Phenotype:

Name: Ermine Phenotype 56 52 58 71
Pigmentary Disorder with Hearing Loss 56 52 58
O'doherty Syndrome 52 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:

56
Inheritance:
autosomal recessive


HPO:

31
ermine phenotype:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 227010
MESH via Orphanet 44 C535508
ICD10 via Orphanet 33 E70.3
UMLS via Orphanet 72 C1856899
Orphanet 58 ORPHA999
MedGen 41 C1856899
UMLS 71 C1856899

Summaries for Ermine Phenotype

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ermine Phenotype, also known as pigmentary disorder with hearing loss, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and branchiootic syndrome 1. Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and hypopigmented skin patches

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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
2 branchiootic syndrome 1 10.1
3 sensorineural hearing loss 10.1
4 microcephaly 10.1

Symptoms & Phenotypes for Ermine Phenotype

Human phenotypes related to Ermine Phenotype:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
3 hypopigmentation of hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0005599
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 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
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 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
11 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
12 abnormality of the nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000366
13 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
14 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
15 ocular albinism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001107
16 vitiligo 31 HP:0001045
17 white hair 31 HP:0011364
18 white eyebrow 31 HP:0002226
19 white eyelashes 31 HP:0002227
20 iris hypopigmentation 58 Occasional (29-5%)
21 spotty hyperpigmentation 31 HP:0005585
22 albinism 31 HP:0001022

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Ermine Phenotype

Search Clinical Trials , NIH Clinical Center for Ermine Phenotype

Genetic Tests for Ermine Phenotype

Anatomical Context for Ermine Phenotype

MalaCards organs/tissues related to Ermine Phenotype:

40
Skin

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 56
19449401 2009
2
The ermine phenotype: pigmentary-hearing loss heterogeneity. 56 61
3055988 1988
3
Depigmentations of the general and oral tissues and their genetic foundations. 56
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
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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