MCID: ICH035
MIFTS: 19

Ichthyosis, Hystrix-Like, with Deafness

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Ichthyosis, Hystrix-Like, with Deafness

MalaCards integrated aliases for Ichthyosis, Hystrix-Like, with Deafness:

Name: Ichthyosis, Hystrix-Like, with Deafness 57 25 73
Hystrix-Like Ichthyosis with Deafness 57 25 29 13 6 40
Hid Syndrome 57 25 75
Ichthyosis Hystrix-Like with Deafness Syndrome 75

Characteristics:

OMIM:

57
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
ichthyosis, hystrix-like, with deafness:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ichthyosis, Hystrix-Like, with Deafness

UniProtKB/Swiss-Prot : 75 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 : Ichthyosis, Hystrix-Like, with Deafness, also known as hystrix-like ichthyosis with deafness, is related to kid syndrome. An important gene associated with Ichthyosis, Hystrix-Like, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and sparse and thin eyebrow

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 Ichthyosis, Hystrix-Like, with Deafness

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

# Related Disease Score Top Affiliating Genes
1 kid syndrome 11.1

Symptoms & Phenotypes for Ichthyosis, Hystrix-Like, with Deafness

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
ichthyosis
erythroderma
punctate keratitis
spiky hyperkeratosis
variable involvement of palms and soles

Head And Neck Eyes:
absent eyelashes

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

Skeletal Feet:
pes cavus

Neoplasia:
squamous cell carcinoma

Head And Neck Ears:
deafness, sensorineural


Clinical features from OMIM:

602540

Human phenotypes related to Ichthyosis, Hystrix-Like, with Deafness:

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

Drugs & Therapeutics for Ichthyosis, Hystrix-Like, with Deafness

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

Genetic Tests for Ichthyosis, Hystrix-Like, with Deafness

Genetic tests related to Ichthyosis, Hystrix-Like, with Deafness:

# Genetic test Affiliating Genes
1 Hystrix-Like Ichthyosis with Deafness 29 GJB2

Anatomical Context for Ichthyosis, Hystrix-Like, with Deafness

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

41
Skin

Publications for Ichthyosis, Hystrix-Like, with Deafness

Variations for Ichthyosis, Hystrix-Like, with Deafness

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

75
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Asp50Asn VAR_015456 rs28931594

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

6
(show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
2 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
3 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
4 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
5 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
6 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
7 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
8 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
9 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
10 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
11 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
12 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
13 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
14 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh38 Chromosome 13, 20189299: 20189299
15 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
16 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh38 Chromosome 13, 20189166: 20189166
17 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
18 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh38 Chromosome 13, 20188965: 20188965
19 GJB2 NM_004004.5(GJB2): c.493C> T (p.Arg165Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs376898963 GRCh37 Chromosome 13, 20763228: 20763228
20 GJB2 NM_004004.5(GJB2): c.493C> T (p.Arg165Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs376898963 GRCh38 Chromosome 13, 20189089: 20189089
21 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Likely benign rs150529554 GRCh38 Chromosome 13, 20189227: 20189227
22 GJB2 NM_004004.5(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Likely benign rs150529554 GRCh37 Chromosome 13, 20763366: 20763366
23 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
24 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
25 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh37 Chromosome 13, 20763601: 20763601
26 GJB2 NM_004004.5(GJB2): c.120A> C (p.Ala40=) single nucleotide variant Conflicting interpretations of pathogenicity rs561870637 GRCh38 Chromosome 13, 20189462: 20189462
27 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh38 Chromosome 13, 20187695: 20187695
28 GJB2 NM_004004.5(GJB2): c.*1206T> G single nucleotide variant Uncertain significance rs886050026 GRCh37 Chromosome 13, 20761834: 20761834
29 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh37 Chromosome 13, 20762926: 20762926
30 GJB2 NM_004004.5(GJB2): c.*114T> C single nucleotide variant Likely benign rs182085649 GRCh38 Chromosome 13, 20188787: 20188787
31 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh37 Chromosome 13, 20761843: 20761843
32 GJB2 NM_004004.5(GJB2): c.*1197T> A single nucleotide variant Benign rs11841182 GRCh38 Chromosome 13, 20187704: 20187704
33 GJB2 NM_004004.5(GJB2): c.*1152G> A single nucleotide variant Benign rs7623 GRCh38 Chromosome 13, 20187749: 20187749
34 GJB2 NM_004004.5(GJB2): c.*1152G> A single nucleotide variant Benign rs7623 GRCh37 Chromosome 13, 20761888: 20761888
35 GJB2 NM_004004.5(GJB2): c.*1033G> A single nucleotide variant Likely benign rs185790172 GRCh37 Chromosome 13, 20762007: 20762007
36 GJB2 NM_004004.5(GJB2): c.*1033G> A single nucleotide variant Likely benign rs185790172 GRCh38 Chromosome 13, 20187868: 20187868
37 GJB2 NM_004004.5(GJB2): c.*1016A> G single nucleotide variant Likely benign rs537683957 GRCh37 Chromosome 13, 20762024: 20762024
38 GJB2 NM_004004.5(GJB2): c.*1016A> G single nucleotide variant Likely benign rs537683957 GRCh38 Chromosome 13, 20187885: 20187885
39 GJB2 NM_004004.5(GJB2): c.*800A> G single nucleotide variant Uncertain significance rs886050027 GRCh37 Chromosome 13, 20762240: 20762240
40 GJB2 NM_004004.5(GJB2): c.*800A> G single nucleotide variant Uncertain significance rs886050027 GRCh38 Chromosome 13, 20188101: 20188101
41 GJB2 NM_004004.5(GJB2): c.*544T> C single nucleotide variant Likely benign rs564755659 GRCh37 Chromosome 13, 20762496: 20762496
42 GJB2 NM_004004.5(GJB2): c.*544T> C single nucleotide variant Likely benign rs564755659 GRCh38 Chromosome 13, 20188357: 20188357
43 GJB2 NM_004004.5(GJB2): c.*423C> T single nucleotide variant Uncertain significance rs112457424 GRCh37 Chromosome 13, 20762617: 20762617
44 GJB2 NM_004004.5(GJB2): c.*423C> T single nucleotide variant Uncertain significance rs112457424 GRCh38 Chromosome 13, 20188478: 20188478
45 GJB2 NM_004004.5(GJB2): c.*1067G> T single nucleotide variant Benign rs9237 GRCh37 Chromosome 13, 20761973: 20761973
46 GJB2 NM_004004.5(GJB2): c.*1067G> T single nucleotide variant Benign rs9237 GRCh38 Chromosome 13, 20187834: 20187834
47 GJB2 NM_004004.5(GJB2): c.*786G> A single nucleotide variant Likely benign rs187158699 GRCh37 Chromosome 13, 20762254: 20762254
48 GJB2 NM_004004.5(GJB2): c.*786G> A single nucleotide variant Likely benign rs187158699 GRCh38 Chromosome 13, 20188115: 20188115
49 GJB2 NM_004004.5(GJB2): c.*482A> G single nucleotide variant Uncertain significance rs886050028 GRCh37 Chromosome 13, 20762558: 20762558
50 GJB2 NM_004004.5(GJB2): c.*482A> G single nucleotide variant Uncertain significance rs886050028 GRCh38 Chromosome 13, 20188419: 20188419

Expression for Ichthyosis, Hystrix-Like, with Deafness

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

Pathways for Ichthyosis, Hystrix-Like, with Deafness

GO Terms for Ichthyosis, Hystrix-Like, with Deafness

Sources for Ichthyosis, Hystrix-Like, with Deafness

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