HID SYNDROME
MCID: ICH035
MIFTS: 29

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

Categories: Cancer diseases, Ear diseases, Genetic diseases, Skin 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 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:



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

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

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

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

31 (show all 11)
# Description HPO Frequency 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)

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:

40
Skin

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
12072059 2002
2
Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. 6
18843290 2009
3
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. 6
17666888 2007
4
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. 6
17330861 2007
5
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. 6
18294064 2007
6
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. 6
15633193 2005
7
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. 6
12548749 2003
8
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. 6
12172392 2002
9
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. 6
11912510 2002
10
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. 6
10713883 2000
11
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. 6
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
9328482 1997
13
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. 6
9336442 1997
14
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. 6
9285800 1997
15
Ichthyosiform dermatosis and deafness. Report of a case and review of the literature. 57
3276270 1988
16
Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders. 61
29018324 2017
17
KID syndrome associated with features of ichthyosis hystrix. 61
10792799 2000

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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