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

HID SYNDROME MCID: ICH035 MIFTS: 29	Ichthyosis, Hystrix-Like, with Deafness (HID SYNDROME) Categories: Cancer diseases, Ear diseases, Genetic diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes 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 ⁴³ ⁷⁰

Hystrix-Like Ichthyosis with Deafness ⁵⁷ ⁴³ ²⁹ ¹³ ⁶ ³⁹

Hid Syndrome ⁵⁷ ⁴³ ⁷²

Ichthyosis Hystrix-Like with Deafness Syndrome ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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:

³¹

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

Classifications:

MalaCards categories:
Global: Genetic diseases Cancer diseases
Anatomical: Skin diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 602540

MeSH ⁴⁴ D006319 D007057

MedGen ⁴¹ C1865234

SNOMED-CT via HPO ⁶⁸ 200948000 205091006 263681008 more

UMLS ⁷⁰ C1865234

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Summaries for Ichthyosis, Hystrix-Like, with Deafness

MedlinePlus Genetics : ⁴³ 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.Newborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.

MalaCards based summary : Ichthyosis, Hystrix-Like, with Deafness, also known as hystrix-like ichthyosis with deafness, is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant. 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 ichthyosis

UniProtKB/Swiss-Prot : ⁷² 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.

More information 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	keratitis-ichthyosis-deafness syndrome, autosomal dominant	11.5

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

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

³¹ (show all 11)

#	Description	HPO Source Accession
1	sensorineural hearing impairment ³¹	HP:0000407
2	ichthyosis ³¹	HP:0008064
3	palmoplantar keratoderma ³¹	HP:0000982
4	pes cavus ³¹	HP:0001761
5	absent eyelashes ³¹	HP:0000561
6	erythroderma ³¹	HP:0001019
7	sparse eyelashes ³¹	HP:0000653
8	squamous cell carcinoma ³¹	HP:0002860
9	scarring alopecia of scalp ³¹	HP:0004552
10	punctate keratitis ³¹	HP:0011859
11	sparse and thin eyebrow ³¹	HP:0000535

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 (Updated 05-Apr-2021)

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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:

⁴⁰

Skin

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Publications for Ichthyosis, Hystrix-Like, with Deafness

Articles related to Ichthyosis, Hystrix-Like, with Deafness:

(show all 17)

#	Title	Authors	PMID	Year
1	HID and KID syndromes are associated with the same connexin 26 mutation. ⁶¹ ⁵⁷ ⁶	van Geel M...Konig A	12072059	2002
2	Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. ⁶	Titeux M...Hovnanian A	18843290	2009
3	A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. ⁶	Putcha GV...Schrijver I	17666888	2007
4	Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. ⁶	Nyquist GG...Richard G	17330861	2007
5	Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. ⁶	Bouwer S...Kalaydjieva L	18294064	2007
6	GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. ⁶	Janecke AR...Rittinger O	15633193	2005
7	De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. ⁶	Alvarez A...Tapia MC	12548749	2003
8	GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. ⁶	Kenneson A...Boyle C	12172392	2002
9	Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. ⁶	Richard G...Russell L	11912510	2002
10	High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. ⁶	Gasparini P...Estivill X	10713883	2000
11	Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. ⁶	Green GE...Smith RJ	10376574	1999
12	Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. ⁶	Carrasquillo MM...Chakravarti A	9328482	1997
13	Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. ⁶	Denoyelle F...Petit C	9336442	1997
14	Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. ⁶	Zelante L...Fortina P	9285800	1997
15	Ichthyosiform dermatosis and deafness. Report of a case and review of the literature. ⁵⁷	Baden HP...Bronstein BR	3276270	1988
16	Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders. ⁶¹	Xu L...Mammano F	29018324	2017
17	KID syndrome associated with features of ichthyosis hystrix. ⁶¹	Nousari HC...Pinto JL	10792799	2000

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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	PubMed IDs
1	GJB2	Gap Junction Protein Beta 2	Protein Coding	1342.21	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ 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

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

⁶ (show top 50) (show all 96)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GJB2	NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	SNV	Pathogenic	17020	rs28931594	GRCh37: 13:20763573-20763573 GRCh38: 13:20189434-20189434
2	GJB2	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	SNV	Pathogenic	44735	rs111033299	GRCh37: 13:20763438-20763438 GRCh38: 13:20189299-20189299
3	GJB2	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	SNV	Pathogenic	44749	rs76434661	GRCh37: 13:20763305-20763305 GRCh38: 13:20189166-20189166
4	GJB2	NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	SNV	Pathogenic	163514	rs727503066	GRCh37: 13:20763342-20763342 GRCh38: 13:20189203-20189203
5	GJB2	NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	SNV	Pathogenic	550195	rs371024165	GRCh37: 13:20763627-20763627 GRCh38: 13:20189488-20189488
6	GJB2	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	SNV	Pathogenic	17007	rs80338950	GRCh37: 13:20763170-20763170 GRCh38: 13:20189031-20189031
7	GJB2	NM_004004.6(GJB2):c.35del (p.Gly12fs)	Deletion	Pathogenic	17004	rs80338939	GRCh37: 13:20763686-20763686 GRCh38: 13:20189547-20189547
8	GJB2	NM_004004.6(GJB2):c.167del (p.Leu56fs)	Deletion	Pathogenic	17010	rs80338942	GRCh37: 13:20763554-20763554 GRCh38: 13:20189415-20189415
9	GJB2	NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	SNV	Pathogenic	188830	rs104894413	GRCh37: 13:20763590-20763590 GRCh38: 13:20189451-20189451
10	GJB2	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	SNV	Pathogenic	44763	rs111033294	GRCh37: 13:20763104-20763104 GRCh38: 13:20188965-20188965
11	GJB2	NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	SNV	Pathogenic	17005	rs104894398	GRCh37: 13:20763582-20763582 GRCh38: 13:20189443-20189443
12	GJB2	NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	SNV	Pathogenic	17002	rs104894396	GRCh37: 13:20763650-20763650 GRCh38: 13:20189511-20189511
13	GJB2	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	SNV	Pathogenic	17009	rs80338948	GRCh37: 13:20763294-20763294 GRCh38: 13:20189155-20189155
14	GJB2	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	SNV	Pathogenic	17016	rs80338945	GRCh37: 13:20763452-20763452 GRCh38: 13:20189313-20189313
15	GJB2	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	SNV	Pathogenic	17001	rs80338944	GRCh37: 13:20763490-20763490 GRCh38: 13:20189351-20189351
16	GJB2	NM_004004.6(GJB2):c.1A>G (p.Met1Val)	SNV	Pathogenic	44729	rs111033293	GRCh37: 13:20763720-20763720 GRCh38: 13:20189581-20189581
17	GJB2	NM_004004.6(GJB2):c.-23+1G>A	SNV	Pathogenic	17029	rs80338940	GRCh37: 13:20766921-20766921 GRCh38: 13:20192782-20192782
18	GJB2	NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	SNV	Pathogenic	265481	rs774518779	GRCh37: 13:20763215-20763215 GRCh38: 13:20189076-20189076
19	GJB2	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	SNV	Pathogenic	17009	rs80338948	GRCh37: 13:20763294-20763294 GRCh38: 13:20189155-20189155
20	GJB2	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	SNV	Pathogenic	17000	rs35887622	GRCh37: 13:20763620-20763620 GRCh38: 13:20189481-20189481
21	GJB2	NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	SNV	Likely pathogenic	44740	rs104894408	GRCh37: 13:20763687-20763687 GRCh38: 13:20189548-20189548
22	GJB2	NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	SNV	Likely pathogenic	17023	rs72474224	GRCh37: 13:20763612-20763612 GRCh38: 13:20189473-20189473
23	GJB2	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	SNV	Conflicting interpretations of pathogenicity	17016	rs80338945	GRCh37: 13:20763452-20763452 GRCh38: 13:20189313-20189313
24	GJB2	NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	SNV	Uncertain significance	44765	rs111033194	GRCh37: 13:20763051-20763051 GRCh38: 13:20188912-20188912
25	GJB2	NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	SNV	Uncertain significance	44764	rs375599392	GRCh37: 13:20763058-20763058 GRCh38: 13:20188919-20188919
26	GJB2	NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	SNV	Uncertain significance	177751	rs727504309	GRCh37: 13:20763533-20763533 GRCh38: 13:20189394-20189394
27	GJB2	NM_004004.6(GJB2):c.-45C>A	SNV	Uncertain significance	44720	rs397516868	GRCh37: 13:20766944-20766944 GRCh38: 13:20192805-20192805
28	GJB2	NM_004004.6(GJB2):c.-170C>G	SNV	Uncertain significance	881615		GRCh37: 13:20767069-20767069 GRCh38: 13:20192930-20192930
29	GJB2	NM_004004.6(GJB2):c.1291_1294del	Deletion	Uncertain significance	311352	rs886050025	GRCh37: 13:20761746-20761749 GRCh38: 13:20187607-20187610
30	GJB2	NM_004004.6(GJB2):c.*114T>C	SNV	Uncertain significance	311370	rs182085649	GRCh37: 13:20762926-20762926 GRCh38: 13:20188787-20188787
31	GJB2	NM_004004.6(GJB2):c.*1206T>G	SNV	Uncertain significance	311354	rs886050026	GRCh37: 13:20761834-20761834 GRCh38: 13:20187695-20187695
32	GJB2	NM_004004.6(GJB2):c.*423C>T	SNV	Uncertain significance	311367	rs112457424	GRCh37: 13:20762617-20762617 GRCh38: 13:20188478-20188478
33	GJB2	NM_004004.6(GJB2):c.*598C>A	SNV	Uncertain significance	311364	rs550600399	GRCh37: 13:20762442-20762442 GRCh38: 13:20188303-20188303
34	GJB2	NM_004004.6(GJB2):c.*412A>C	SNV	Uncertain significance	311368	rs547859391	GRCh37: 13:20762628-20762628 GRCh38: 13:20188489-20188489
35	GJB2	NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)	SNV	Uncertain significance	21385	rs80338946	GRCh37: 13:20763382-20763382 GRCh38: 13:20189243-20189243
36	GJB2	NM_004004.6(GJB2):c.*979A>G	SNV	Uncertain significance	311360	rs546826225	GRCh37: 13:20762061-20762061 GRCh38: 13:20187922-20187922
37	GJB2	NM_004004.6(GJB2):c.*544T>C	SNV	Uncertain significance	311365	rs564755659	GRCh37: 13:20762496-20762496 GRCh38: 13:20188357-20188357
38	GJB2	NM_004004.6(GJB2):c.*482A>G	SNV	Uncertain significance	311366	rs886050028	GRCh37: 13:20762558-20762558 GRCh38: 13:20188419-20188419
39	GJB2	NM_004004.6(GJB2):c.*800A>G	SNV	Uncertain significance	311362	rs886050027	GRCh37: 13:20762240-20762240 GRCh38: 13:20188101-20188101
40	GJB2	NM_004004.6(GJB2):c.*1040A>G	SNV	Uncertain significance	880907		GRCh37: 13:20762000-20762000 GRCh38: 13:20187861-20187861
41	GJB2	NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)	SNV	Uncertain significance	881103		GRCh37: 13:20763525-20763525 GRCh38: 13:20189386-20189386
42	GJB2	NM_004004.6(GJB2):c.174A>G (p.Pro58=)	SNV	Uncertain significance	881104		GRCh37: 13:20763547-20763547 GRCh38: 13:20189408-20189408
43	GJB2	NM_004004.6(GJB2):c.*385G>C	SNV	Uncertain significance	882320		GRCh37: 13:20762655-20762655 GRCh38: 13:20188516-20188516
44	GJB2	NM_004004.6(GJB2):c.*308G>A	SNV	Uncertain significance	882321		GRCh37: 13:20762732-20762732 GRCh38: 13:20188593-20188593
45	GJB2	NM_004004.6(GJB2):c.*52C>T	SNV	Uncertain significance	882374		GRCh37: 13:20762988-20762988 GRCh38: 13:20188849-20188849
46	GJB2	NM_004004.6(GJB2):c.*679T>C	SNV	Uncertain significance	882542		GRCh37: 13:20762361-20762361 GRCh38: 13:20188222-20188222
47	GJB2	NM_004004.6(GJB2):c.*236A>T	SNV	Uncertain significance	882589		GRCh37: 13:20762804-20762804 GRCh38: 13:20188665-20188665
48	GJB2	NM_004004.6(GJB2):c.*115A>C	SNV	Uncertain significance	882590		GRCh37: 13:20762925-20762925 GRCh38: 13:20188786-20188786
49	GJB2	NM_004004.6(GJB2):c.557C>T (p.Thr186Met)	SNV	Uncertain significance	882640		GRCh37: 13:20763164-20763164 GRCh38: 13:20189025-20189025
50	GJB2	NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)	SNV	Uncertain significance	882688		GRCh37: 13:20763434-20763434 GRCh38: 13:20189295-20189295

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

⁷²

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

Cosmic variations for Ichthyosis, Hystrix-Like, with Deafness:

⁹ (show top 50) (show all 345)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM106059757	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.260C>A	p.P87Q	17:7676109-7676109	8
2	COSM112354551	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.565G>A	p.A189T	17:7674966-7674966	8
3	COSM111759858	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.856G>A	p.E286K	17:7673764-7673764	8
4	COSM145161899	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.833A>G	p.Q278R	17:7673578-7673578	8
5	COSM112254266	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.673-1G>A	p.?	17:7674291-7674291	8
6	COSM145019215	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.739G>A	p.E247K	17:7673764-7673764	8
7	COSM144309924	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.701G>A	p.R234H	17:7673802-7673802	8
8	COSM144087977	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.379G>A	p.E127K	17:7673764-7673764	8
9	COSM93190386	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.260C>A	p.P87Q	17:7676109-7676109	8
10	COSM106059965	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.647T>A	p.V216E	17:7674884-7674884	8
11	COSM105621918	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.782+417G>A	p.?	17:7673764-7673764	8
12	COSM143386984	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.193C>T	p.Q65*	17:7676059-7676059	8
13	COSM122787283	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.449G>C	p.R150P	17:7673775-7673775	8
14	COSM144213765	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.473A>G	p.Q158R	17:7673578-7673578	8
15	COSM111765517	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.260C>A	p.P87Q	17:7676109-7676109	8
16	COSM142560894	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.556-1G>A	p.?	17:7674291-7674291	8
17	COSM87899076	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.673-1G>A	p.?	17:7674291-7674291	8
18	COSM145018355	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.556-1G>A	p.?	17:7674291-7674291	8
19	COSM143465962	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.448G>A	p.A150T	17:7674966-7674966	8
20	COSM144651848	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.556-1G>A	p.?	17:7674291-7674291	8
21	COSM105636071	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.310C>T	p.Q104*	17:7676059-7676059	8
22	COSM144311386	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.739G>A	p.E247K	17:7673764-7673764	8
23	COSM106053786	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.673-1G>A	p.?	17:7674291-7674291	8
24	COSM144757328	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.448G>A	p.A150T	17:7674966-7674966	8
25	COSM143945161	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.379G>A	p.E127K	17:7673764-7673764	8
26	COSM87899887	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.856G>A	p.E286K	17:7673764-7673764	8
27	COSM121884502	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.251T>A	p.V84E	17:7674884-7674884	8
28	COSM144315643	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.143C>A	p.P48Q	17:7676109-7676109	8
29	COSM142566904	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.530T>A	p.V177E	17:7674884-7674884	8
30	COSM111807840	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.845G>C	p.R282P	17:7673775-7673775	8
31	COSM144652672	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.739G>A	p.E247K	17:7673764-7673764	8
32	COSM143000079	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.590T>C	p.V197A	17:7674941-7674941	8
33	COSM105621045	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.673-1G>A	p.?	17:7674291-7674291	8
34	COSM93198616	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.310C>T	p.Q104*	17:7676059-7676059	8
35	COSM105627660	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.647T>A	p.V216E	17:7674884-7674884	8
36	COSM144650760	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.701G>A	p.R234H	17:7673802-7673802	8
37	COSM111909038	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.950A>G	p.Q317R	17:7673578-7673578	8
38	COSM144087357	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.83-1G>A	p.?	17:7674972-7674972	8
39	COSM106067323	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.310C>T	p.Q104*	17:7676059-7676059	8
40	COSM144014790	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.823G>A	p.E275K	17:7673764-7673764	8
41	COSM122278245	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.251T>A	p.V84E	17:7674884-7674884	8
42	COSM122740574	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.251T>A	p.V84E	17:7674884-7674884	8
43	COSM105627464	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.260C>A	p.P87Q	17:7676109-7676109	8
44	COSM112268626	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.310C>T	p.Q104*	17:7676059-7676059	8
45	COSM144440622	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.833A>G	p.Q278R	17:7673578-7673578	8
46	COSM93190806	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.647T>A	p.V216E	17:7674884-7674884	8
47	COSM106140358	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.565G>C	p.A189P	17:7674966-7674966	8
48	COSM142838326	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.856G>A	p.E286K	17:7673764-7673764	8
49	COSM122272113	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.277-1G>A	p.?	17:7674291-7674291	8
50	COSM111758217	TP53	skin,hand,carcinoma,squamous cell carcinoma	c.818G>A	p.R273H	17:7673802-7673802	8

Sources

Expression for Ichthyosis, Hystrix-Like, with Deafness

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

Sources

Pathways for Ichthyosis, Hystrix-Like, with Deafness

Sources

GO Terms for Ichthyosis, Hystrix-Like, with Deafness

Sources

Sources for Ichthyosis, Hystrix-Like, with Deafness

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Ichthyosis, Hystrix-Like, with Deafness (HID SYNDROME)

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

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Ichthyosis, Hystrix-Like, with Deafness

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:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Genetic Tests for Ichthyosis, Hystrix-Like, with Deafness

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

Anatomical Context for Ichthyosis, Hystrix-Like, with Deafness

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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):

Variations for Ichthyosis, Hystrix-Like, with Deafness

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

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

Cosmic variations for Ichthyosis, Hystrix-Like, with Deafness:

Expression 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