MCID: HYS001
MIFTS: 22

Hystrix-Like Ichthyosis with Deafness

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Hystrix-Like Ichthyosis with Deafness

MalaCards integrated aliases for Hystrix-Like Ichthyosis with Deafness:

Name: Hystrix-Like Ichthyosis with Deafness 54 25 29 13
Ichthyosis, Hystrix-Like, with Deafness 24 25 69
Hid Syndrome 25 71
Ichthyosis Hystrix-Like with Deafness Syndrome 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in first year of life
allelic to kid syndrome , dfna3 , dfnb1 , vohwinkel syndrome , keratoderma, palmoplantar with deafness
kid syndrome and hid syndrome are identical at the molecular level


HPO:

32
hystrix-like ichthyosis with deafness:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hystrix-Like Ichthyosis with Deafness

UniProtKB/Swiss-Prot : 71 Ichthyosis hystrix-like with deafness syndrome: An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.

MalaCards based summary : Hystrix-Like Ichthyosis with Deafness, also known as ichthyosis, hystrix-like, with deafness, is related to kid syndrome, and has symptoms including palmoplantar keratoderma, pes cavus and absent eyelashes. An important gene associated with Hystrix-Like Ichthyosis with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin.

Genetics Home Reference : 25 Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.

Description from OMIM: 602540

Related Diseases for Hystrix-Like Ichthyosis with Deafness

Diseases related to Hystrix-Like Ichthyosis with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 kid syndrome 11.0

Symptoms & Phenotypes for Hystrix-Like Ichthyosis with Deafness

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Feet:
pes cavus

Head And Neck- Eyes:
absent eyelashes

Skin Nails & Hair- Hair:
sparse eyebrows
absent-sparse eyelashes
scarring alopecia

Head And Neck- Ears:
deafness, sensorineural

Skin Nails & Hair- Skin:
ichthyosis
punctate keratitis
spiky hyperkeratosis
erythroderma
variable involvement of palms and soles

Neoplasia:
squamous cell carcinoma


Clinical features from OMIM:

602540

Human phenotypes related to Hystrix-Like Ichthyosis with Deafness:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 pes cavus 32 HP:0001761
3 absent eyelashes 32 HP:0000561
4 ichthyosis 32 HP:0008064
5 sparse eyelashes 32 HP:0000653
6 squamous cell carcinoma 32 HP:0002860
7 sensorineural hearing impairment 32 HP:0000407
8 punctate keratitis 32 HP:0011859
9 scarring alopecia of scalp 32 HP:0004552
10 erythroderma 32 HP:0001019
11 sparse and thin eyebrow 32 HP:0000535

Drugs & Therapeutics for Hystrix-Like Ichthyosis with Deafness

Search Clinical Trials , NIH Clinical Center for Hystrix-Like Ichthyosis with Deafness

Genetic Tests for Hystrix-Like Ichthyosis with Deafness

Genetic tests related to Hystrix-Like Ichthyosis with Deafness:

id Genetic test Affiliating Genes
1 Hystrix-Like Ichthyosis with Deafness 29
2 Ichthyosis, Hystrix-Like, with Deafness 24 GJB2

Anatomical Context for Hystrix-Like Ichthyosis with Deafness

MalaCards organs/tissues related to Hystrix-Like Ichthyosis with Deafness:

39
Skin

Publications for Hystrix-Like Ichthyosis with Deafness

Variations for Hystrix-Like Ichthyosis with Deafness

UniProtKB/Swiss-Prot genetic disease variations for Hystrix-Like Ichthyosis with Deafness:

71
id Symbol AA change Variation ID SNP ID
1 GJB2 p.Asp50Asn VAR_015456 rs28931594

ClinVar genetic disease variations for Hystrix-Like Ichthyosis with Deafness:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
2 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573

Expression for Hystrix-Like Ichthyosis with Deafness

Search GEO for disease gene expression data for Hystrix-Like Ichthyosis with Deafness.

Pathways for Hystrix-Like Ichthyosis with Deafness

GO Terms for Hystrix-Like Ichthyosis with Deafness

Sources for Hystrix-Like Ichthyosis with Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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