MCID: ICH051
MIFTS: 35

Ichthyosis, Congenital, Autosomal Recessive 11

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 11

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 11:

Name: Ichthyosis, Congenital, Autosomal Recessive 11 53 71 28
Ichthyosis and Follicular Atrophoderma with Hypotrichosis and Hypohidrosis 53 12 71
Ichthyosis with Hypotrichosis, Autosomal Recessive 53 49 69
Autosomal Recessive Ichthyosis with Hypotrichosis 12 49 71
Arih 53 49 71
Ichthyosis-Follicular Atrophoderma-Hypotrichosis-Hypohidrosis Syndrome 12 55
Ichthyosis-Follicular Atrophoderma-Hypotrichosis Syndrome 12 55
Autosomal Recessive Congenital Ichthyosis 11 12 14
Hypotrichosis-Congenital Ichthyosis Syndrome 12 55
Ichthyosis-Hypotrichosis Syndrome 12 55
Ichthyosis with Hypotrichosis 36 13
Ifah Syndrome 12 55
Arci11 53 71
Ifah 53 71
Ihs 12 55
Ichthyosis and Follicular Atrophoderma with Hypotrichosis and Hypohidrosis; Ifah 53
Ichthyosis with Hypotrichosis, Autosomal Recessive; Arih 53

Characteristics:

Orphanet epidemiological data:

55
ichthyosis-hypotrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
ichthyosis, congenital, autosomal recessive 11:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 602400
Disease Ontology 12 DOID:0060720
ICD10 32 Q80.8
Orphanet 55 ORPHA91132
UMLS via Orphanet 70 C1835851
ICD10 via Orphanet 33 Q80.8
MeSH 41 D017490
KEGG 36 H00739
UMLS 69 C1835851

Summaries for Ichthyosis, Congenital, Autosomal Recessive 11

OMIM : 53 Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (602400)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 11, also known as ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis, is related to congenital disorder of glycosylation, type ih and amelogenesis imperfecta, type ih, and has symptoms including ichthyosis, hypotrichosis and photophobia. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 11 is ST14 (Suppression Of Tumorigenicity 14). Affiliated tissues include skin.

Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has material basis in homozygous mutation in the ST14 gene on chromosome 11q24.

UniProtKB/Swiss-Prot : 71 Ichthyosis, congenital, autosomal recessive 11: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Related Diseases for Ichthyosis, Congenital, Autosomal Recessive 11

Diseases in the Ichthyosis family:

Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Congenital, Autosomal Recessive 4b Ichthyosis, Congenital, Autosomal Recessive 4a
Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis, Congenital, Autosomal Recessive 5
Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 6
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 12 Ichthyosis, Congenital, Autosomal Recessive 14
Ichthyosis, Congenital, Autosomal Recessive 13 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired

Diseases related to Ichthyosis, Congenital, Autosomal Recessive 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ih 12.2
2 amelogenesis imperfecta, type ih 12.2
3 hurler syndrome 12.0
4 hurler-scheie syndrome 12.0
5 usher syndrome, type ih 12.0
6 scheie syndrome 11.3
7 idiopathic hypersomnia 11.2
8 heart disease 11.2
9 pericarditis 11.0
10 hemihyperplasia, isolated 10.9
11 usher syndrome, type id 10.9
12 macular dystrophy, corneal 10.9
13 hemangioma, capillary infantile 10.9
14 intermittent hydrarthrosis 10.9
15 persistent idiopathic facial pain 10.9
16 ichthyosis 10.3
17 hypotrichosis 10.3
18 mucopolysaccharidosis-plus syndrome 10.2
19 headache 10.1
20 migraine with or without aura 1 10.1
21 migraine without aura 10.1
22 congenital disorder of glycosylation, type in 10.0
23 hemangioma 10.0
24 tolosa-hunt syndrome 10.0
25 neuronitis 10.0
26 hypereosinophilic syndrome, idiopathic 9.9
27 hypereosinophilic syndrome 9.9
28 cluster headache 9.9
29 multiple sclerosis 9.7
30 porphyria cutanea tarda 9.7
31 rheumatoid arthritis 9.7
32 autism 9.7
33 metachromatic leukodystrophy 9.7
34 hepatitis c virus 9.7
35 arthritis 9.7
36 dilated cardiomyopathy 9.7
37 hepatitis 9.7
38 temporal lobe epilepsy 9.7
39 familial hemiplegic migraine 9.7
40 leukodystrophy 9.7
41 porphyria 9.7
42 epilepsy 9.7
43 hepatitis c 9.7
44 histiocytosis 9.7
45 intracranial hypotension 9.7
46 hemicrania continua 9.7
47 hemiplegic migraine 9.7
48 phace syndrome 9.7
49 febrile seizures 9.7
50 hypoxia 9.7

Graphical network of the top 20 diseases related to Ichthyosis, Congenital, Autosomal Recessive 11:



Diseases related to Ichthyosis, Congenital, Autosomal Recessive 11

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 11

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
photophobia
corneal opacity
blepharitis
sparse eyebrows
long, curly dark upper eyelashes (in some patients)
more
Growth Weight:
normal birth weight

Skin Nails Hair Skin Histology:
thickened stratum corneum
marked acanthosis
orthohyperkeratosis in stratum corneum
thinned hair follicle epithelium
hyperkeratosis of hair infundibulum
more
Skin Nails Hair Skin:
ichthyosis, congenital
vernix-like skin covering, present at birth, shed during first month of life (in some patients)
follicular atrophoderma (in some patients)
hypohidrosis (in some patients)

Skin Nails Hair Hair:
curly hair
sparse hair
pili torti
sparse eyebrows
fragile hair
more
Skin Nails Hair Nails:
normal nails

Head And Neck Teeth:
conical primary teeth (rare)
notched teeth (rare)
pitted teeth (rare)

Skin Nails Hair Skin Electron Microscopy:
thin stratum granulosum
persistence of corneodesmosomes in stratum corneum
lamellar body-like deposits in stratum corneum


Clinical features from OMIM:

602400

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 11:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008064
2 hypotrichosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001006
3 photophobia 31 HP:0000613
4 corneal opacity 31 HP:0007957
5 hypohidrosis 31 occasional (7.5%) HP:0000966
6 blepharitis 31 HP:0000498
7 curly hair 31 HP:0002212
8 sparse hair 31 HP:0008070
9 pili torti 31 HP:0003777
10 brittle hair 31 HP:0002299
11 congenital ichthyosiform erythroderma 31 HP:0007431
12 sparse and thin eyebrow 31 HP:0000535

UMLS symptoms related to Ichthyosis, Congenital, Autosomal Recessive 11:


photophobia

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 11

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 11

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 11

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 11:

# Genetic test Affiliating Genes
1 Ichthyosis, Congenital, Autosomal Recessive 11 28

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 11

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 11:

38
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 11

Articles related to Ichthyosis, Congenital, Autosomal Recessive 11:

# Title Authors Year
1
Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. ( 18263585 )
2008
2
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype. ( 18445049 )
2008
3
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. ( 17273967 )
2007

Variations for Ichthyosis, Congenital, Autosomal Recessive 11

UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 11:

71
# Symbol AA change Variation ID SNP ID
1 ST14 p.Gly827Arg VAR_032849 rs137852931

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ST14 NM_021978.3(ST14): c.2269+1G> A single nucleotide variant Pathogenic rs587777262 GRCh38 Chromosome 11, 130208685: 130208685
2 ST14 NM_021978.3(ST14): c.2034delG (p.Leu678Phefs) deletion Pathogenic rs587777263 GRCh38 Chromosome 11, 130208449: 130208449
3 ST14 NM_021978.3(ST14): c.2479G> A (p.Gly827Arg) single nucleotide variant Pathogenic rs137852931 GRCh37 Chromosome 11, 130079629: 130079629
4 ST14 NM_021978.3(ST14): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs137852932 GRCh37 Chromosome 11, 130029877: 130029877

Expression for Ichthyosis, Congenital, Autosomal Recessive 11

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 11.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 11

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 11

Sources for Ichthyosis, Congenital, Autosomal Recessive 11

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58 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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