ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS

General Information (adopted from Orphanet):

Synonyms, Signs: HID SYNDROME
Number of Symptoms 19
OrphanetNr:
OMIM Id: 602540
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0200102) Sparse or absent eyelashes 64 / 7739
2
(HPO:0000561) Absent eyelashes 18 / 7739
3
(HPO:0000653) Sparse eyelashes 58 / 7739
4
(HPO:0004552) Scarring alopecia of scalp 3 / 7739
5
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
6
(HPO:0011859) Punctate keratitis 2 / 7739
7
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
8
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
9
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
10
(HPO:0001761) Pes cavus 225 / 7739
11
(HPO:0008064) Ichthyosis 108 / 7739
12
(HPO:0002860) Squamous cell carcinoma 18 / 7739
13
(HPO:0000982) Palmoplantar keratoderma 40 / 7739
14
(HPO:0001019) Erythroderma 24 / 7739
15
(OMIM) Spiky hyperkeratosis 1 / 7739
16
(OMIM) Variable involvement of palms and soles 1 / 7739
17
(HPO:0003593) Infantile onset 249 / 7739
18
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
(MedDRA:10001764) Alopecia scarring 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schnyder and Gloor (1977) and Gulzow and Anton-Lamprecht (1977) described a 17-year-old male with ichthyosis hystrix and bilateral hearing loss. Thereafter, sporadic cases of both sexes were reported (Baden and Bronstein, 1988; Badillet et al., 1982). Because of ...
Molecular genetics OMIM Because of similarities between HID syndrome and KID syndrome, which results from mutations in the connexin-26 gene (GJB2), van Geel et al. (2002) searched for mutations in the GJB2 gene in the first reported case of HID syndrome ...