Ichthyosis-hypotrichosis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ARIH
Hypotrichosis - congenital ichthyosis
Number of Symptoms 34
OrphanetNr: 91132
OMIM Id: 610765
ICD-10: Q80.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alopecia
 -Rare genetic disease
 -Rare skin disease
Autosomal ichthyosis syndrome with prominent hair abnormalities
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0007665) Curly eyelashes 6 / 7739
2
 (HPO:0000164) Abnormality of the teeth 291 / 7739
3
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
4
 (HPO:0000498) Blepharitis 27 / 7739
5
 (HPO:0007840) Long upper eyelashes 1 / 7739
6
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
7
 (HPO:0007957) Corneal opacity 84 / 7739
8
 (HPO:0000613) Photophobia 158 / 7739
9
 (HPO:0001507) Growth abnormality 36 / 7739
10
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
11
 (HPO:0000951) Abnormality of the skin 147 / 7739
12
 (HPO:0001597) Abnormality of the nail 115 / 7739
13
 (HPO:0003777) Pili torti 24 / 7739
14
 (HPO:0008070) Sparse hair 94 / 7739
15
 (HPO:0002299) Brittle hair 52 / 7739
16
 (HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
17
 (HPO:0002212) Curly hair 21 / 7739
18
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
19
 (OMIM) Conical primary teeth 1 / 7739
20
 (OMIM) Marked acanthosis 1 / 7739
21
 (OMIM) Birth weight normal 14 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Central pili mono bifurcati 1 / 7739
24
 (OMIM) Long, curly dark upper eyelashes 1 / 7739
25
 (OMIM) Vernix-like skin covering (present at birth, shed during first month of life) 1 / 7739
26
 (OMIM) Fragile hair 5 / 7739
27
 (OMIM) Pili bifurcati 1 / 7739
28
 (OMIM) Pitted teeth 2 / 7739
29
 (OMIM) Persistence of corneodesmosomes in stratum corneum 1 / 7739
30
 (OMIM) Normal nails 15 / 7739
31
 (MedDRA:10035060) Pinguecula 4 / 7739
32
 (OMIM) Thickened stratum corneum 3 / 7739
33
 (OMIM) Dysplastic hair 1 / 7739
34
 (OMIM) Notched teeth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Basel-Vanagaite et al. (2007) described a consanguineous Israeli-Arab family with autosomal recessive ichthyosis with hypotrichosis. Among the offspring of first-cousin parents, 3 sibs were affected and 5 unaffected. Ichthyosis and abnormal hair were present at birth. Two of ...
Molecular genetics OMIM By sequencing the ST14 gene in affected members of a family with ARIH, Basel-Vanagaite et al. (2007) identified a causative missense mutation (606797.0001).

In a 2.5-year-old girl with ARIH, Avrahami et al.(2008) identified a homozygous mutation ...