Ichthyosis, Hystrix-Like, with Deafness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ICH035 MIFTS: 19	Ichthyosis, Hystrix-Like, with Deafness Categories: Genetic diseases, Ear diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 602540

MedGen ⁴² C1865234

MeSH ⁴⁴ D006319 D007057

SNOMED-CT via HPO ⁶⁹ 263681008 60700002 706885006 more

UMLS ⁷³ C1865234

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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

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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

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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 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

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

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

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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

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Anatomical Context for Ichthyosis, Hystrix-Like, with Deafness

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

⁴¹

Skin

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Publications for Ichthyosis, Hystrix-Like, with Deafness

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Genes for Ichthyosis, Hystrix-Like, with Deafness

Genes related to Ichthyosis, Hystrix-Like, with Deafness (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GJB2	Gap Junction Protein Beta 2	Protein Coding	1352.78	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	11912510 12548749 12072059 (more) 15633193 17330861 18843290

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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

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Expression for Ichthyosis, Hystrix-Like, with Deafness

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

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Pathways for Ichthyosis, Hystrix-Like, with Deafness

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GO Terms for Ichthyosis, Hystrix-Like, with Deafness

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Sources for Ichthyosis, Hystrix-Like, with Deafness

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