HID SYNDROME
MCID: ICH035
MIFTS: 19

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

Categories: 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 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 ichthyosis

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 11.2

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 ichthyosis 32 HP:0008064
3 palmoplantar keratoderma 32 HP:0000982
4 pes cavus 32 HP:0001761
5 erythroderma 32 HP:0001019
6 absent eyelashes 32 HP:0000561
7 squamous cell carcinoma 32 HP:0002860
8 sparse eyelashes 32 HP:0000653
9 scarring alopecia of scalp 32 HP:0004552
10 punctate keratitis 32 HP:0011859
11 sparse and thin eyebrow 32 HP:0000535

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 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
2 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh38 Chromosome 13, 20189481: 20189481
3 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
4 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
5 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
6 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
7 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
8 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
9 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
10 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
11 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh37 Chromosome 13, 20763554: 20763554
12 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh38 Chromosome 13, 20189415: 20189415
13 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
14 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
15 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
16 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
17 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
18 GJB2 NM_004004.5(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh38 Chromosome 13, 20189473: 20189473
19 GJB2 NM_004004.5(GJB2): c.339T> G (p.Ser113Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338946 GRCh37 Chromosome 13, 20763382: 20763382
20 GJB2 NM_004004.5(GJB2): c.339T> G (p.Ser113Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338946 GRCh38 Chromosome 13, 20189243: 20189243
21 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh37 Chromosome 13, 20762956: 20762956
22 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh38 Chromosome 13, 20188817: 20188817
23 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh37 Chromosome 13, 20762929: 20762929
24 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh38 Chromosome 13, 20188790: 20188790
25 GJB2 NM_004004.5(GJB2): c.*1C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111033327 GRCh37 Chromosome 13, 20763039: 20763039
26 GJB2 NM_004004.5(GJB2): c.*1C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111033327 GRCh38 Chromosome 13, 20188900: 20188900
27 GJB2 NM_004004.5(GJB2): c.*3C> A single nucleotide variant Likely benign rs111033460 GRCh37 Chromosome 13, 20763037: 20763037
28 GJB2 NM_004004.5(GJB2): c.*3C> A single nucleotide variant Likely benign rs111033460 GRCh38 Chromosome 13, 20188898: 20188898
29 GJB2 NM_004004.5(GJB2): c.-22-12C> T single nucleotide variant Benign rs9578260 GRCh37 Chromosome 13, 20763754: 20763754
30 GJB2 NM_004004.5(GJB2): c.-22-12C> T single nucleotide variant Benign rs9578260 GRCh38 Chromosome 13, 20189615: 20189615
31 GJB2 NM_004004.5(GJB2): c.-45C> A single nucleotide variant Benign/Likely benign rs397516868 GRCh37 Chromosome 13, 20766944: 20766944
32 GJB2 NM_004004.5(GJB2): c.-45C> A single nucleotide variant Benign/Likely benign rs397516868 GRCh38 Chromosome 13, 20192805: 20192805
33 GJB2 NM_004004.5(GJB2): c.-6T> A single nucleotide variant Benign/Likely benign rs148136545 GRCh37 Chromosome 13, 20763726: 20763726
34 GJB2 NM_004004.5(GJB2): c.-6T> A single nucleotide variant Benign/Likely benign rs148136545 GRCh38 Chromosome 13, 20189587: 20189587
35 GJB2 NM_004004.5(GJB2): c.11G> A (p.Gly4Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs111033222 GRCh37 Chromosome 13, 20763710: 20763710
36 GJB2 NM_004004.5(GJB2): c.11G> A (p.Gly4Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs111033222 GRCh38 Chromosome 13, 20189571: 20189571
37 GJB2 NM_004004.5(GJB2): c.249C> G (p.Phe83Leu) single nucleotide variant Benign/Likely benign rs111033218 GRCh37 Chromosome 13, 20763472: 20763472
38 GJB2 NM_004004.5(GJB2): c.249C> G (p.Phe83Leu) single nucleotide variant Benign/Likely benign rs111033218 GRCh38 Chromosome 13, 20189333: 20189333
39 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
40 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh38 Chromosome 13, 20189299: 20189299
41 GJB2 NM_004004.5(GJB2): c.368C> A (p.Thr123Asn) single nucleotide variant Benign/Likely benign rs111033188 GRCh37 Chromosome 13, 20763353: 20763353
42 GJB2 NM_004004.5(GJB2): c.368C> A (p.Thr123Asn) single nucleotide variant Benign/Likely benign rs111033188 GRCh38 Chromosome 13, 20189214: 20189214
43 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
44 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh38 Chromosome 13, 20189166: 20189166
45 GJB2 NM_004004.5(GJB2): c.478G> A (p.Gly160Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34988750 GRCh37 Chromosome 13, 20763243: 20763243
46 GJB2 NM_004004.5(GJB2): c.478G> A (p.Gly160Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34988750 GRCh38 Chromosome 13, 20189104: 20189104
47 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
48 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh38 Chromosome 13, 20188965: 20188965
49 GJB2 NM_004004.5(GJB2): c.-15C> T single nucleotide variant Benign/Likely benign rs72561725 GRCh37 Chromosome 13, 20763735: 20763735
50 GJB2 NM_004004.5(GJB2): c.-15C> T single nucleotide variant Benign/Likely benign rs72561725 GRCh38 Chromosome 13, 20189596: 20189596

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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