ARCI11
MCID: ICH051
MIFTS: 42

Ichthyosis, Congenital, Autosomal Recessive 11 (ARCI11)

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

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 11

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

Name: Ichthyosis, Congenital, Autosomal Recessive 11 57 72 29 6
Ichthyosis and Follicular Atrophoderma with Hypotrichosis and Hypohidrosis 57 12 72
Ichthyosis with Hypotrichosis, Autosomal Recessive 57 20 70
Autosomal Recessive Ichthyosis with Hypotrichosis 12 20 72
Arih 57 20 72
Ichthyosis-Follicular Atrophoderma-Hypotrichosis-Hypohidrosis Syndrome 12 58
Ichthyosis-Follicular Atrophoderma-Hypotrichosis Syndrome 12 58
Autosomal Recessive Congenital Ichthyosis 11 12 15
Hypotrichosis-Congenital Ichthyosis Syndrome 12 58
Ichthyosis-Hypotrichosis Syndrome 12 58
Ifah Syndrome 12 58
Arci11 57 72
Ifah 57 72
Ihs 12 58
Ichthyosis and Follicular Atrophoderma with Hypotrichosis and Hypohidrosis; Ifah 57
Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis 39
Ichthyosis with Hypotrichosis, Autosomal Recessive; Arih 57
Ichthyosis with Hypotrichosis 36

Characteristics:

Orphanet epidemiological data:

58
ichthyosis-hypotrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060720
OMIM® 57 602400
OMIM Phenotypic Series 57 PS242300
KEGG 36 H00739
MeSH 44 D017490
ICD10 32 Q80.8
ICD10 via Orphanet 33 Q80.8
UMLS via Orphanet 71 C1835851
Orphanet 58 ORPHA91132
UMLS 70 C1835851

Summaries for Ichthyosis, Congenital, Autosomal Recessive 11

OMIM® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 11, also known as ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis, is related to ichthyosis, follicular and autosomal recessive congenital ichthyosis, and has symptoms including photophobia An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 11 is ST14 (ST14 Transmembrane Serine Protease Matriptase), and among its related pathways/superpathways are HIF-1 signaling pathway and HIF-1-alpha transcription factor network. Affiliated tissues include skin, and related phenotypes are ichthyosis and sparse hair

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.

KEGG : 36 Ichthyosis with hypotrichosis is a syndromic form of autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in patients with the disease. It is linked ST14 encoding the matriptase serine protease.

UniProtKB/Swiss-Prot : 72 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 Inherited Ichthyosis
Autosomal Ichthyosis Syndrome

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

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, follicular 31.2 ST14 PRSS8
2 autosomal recessive congenital ichthyosis 28.6 ZNF577 VEGFA SUPT5H ST14 SLC45A2 SLC2A1
3 persistent idiopathic facial pain 11.0
4 headache 10.7
5 migraine with or without aura 1 10.6
6 ichthyosis 10.5
7 hypotrichosis 10.5
8 chondrodysplasia punctata syndrome 10.4
9 bazex syndrome 10.4
10 x-linked chondrodysplasia punctata 2 10.4
11 erythrokeratoderma ''en cocardes'' 10.4
12 migraine without aura 10.4
13 chorioretinal scar 10.4 VEGFA SIGLEC5
14 plethora of newborn 10.4 EPAS1 EGLN1
15 autosomal dominant secondary polycythemia 10.4 EPAS1 EGLN1
16 duodenal somatostatinoma 10.4 EPAS1 EGLN1
17 erythrocytosis, familial, 4 10.3 EPAS1 EGLN1
18 angiokeratoma circumscriptum 10.3 VEGFA SLC2A1
19 retinitis pigmentosa 11 10.3 KDM4C H2AC18 CTCF
20 albinism, oculocutaneous, type v 10.3 SLC45A2 SLC24A5
21 carbohydrate metabolic disorder 10.3 LCT KDM4C H2AC18
22 acquired polycythemia 10.3 EPAS1 EGLN1
23 lymphangioma 10.3 VEGFA KDM4C H2AC18
24 hypotrichosis 1 10.3 VEGFA KDM4C H2AC18
25 suppression of tumorigenicity 12 10.3 VEGFA KDM4C H2AC18
26 retinal hemangioblastoma 10.3 VEGFA EPAS1
27 chronic mountain sickness 10.3 VEGFA EPAS1
28 albinism, oculocutaneous, type ib 10.3 SLC45A2 SLC24A5
29 bone sarcoma 10.3 VEGFA KDM4C H2AC18
30 immunodeficiency with hyper-igm, type 2 10.3 SUPT5H HOXC4 H2AC18
31 leukocyte disease 10.3 VEGFA KDM4C H2AC18
32 albinism, oculocutaneous, type ia 10.3 SLC45A2 SLC24A5
33 migraine with aura 10.3
34 albinism, oculocutaneous, type vii 10.3 SLC45A2 SLC24A5
35 hemangioblastoma 10.3 VEGFA SLC2A1 EPAS1
36 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.3 VEGFA H2AC18 EDAR
37 integumentary system disease 10.3 VEGFA SIGLEC5 KDM4C H2AC18
38 malignant ovarian surface epithelial-stromal neoplasm 10.3 VEGFA KDM4C H2AC18
39 autosomal genetic disease 10.3 VEGFA SIGLEC5 KDM4C H2AC18
40 ovary epithelial cancer 10.3 VEGFA KDM4C H2AC18
41 hair disease 10.3 VEGFA KDM4C H2AC18 EDAR
42 polycythemia 10.3 VEGFA EPAS1 EGLN1
43 esophagus leiomyoma 10.2 EPAS1 EGLN1
44 cardiovascular organ benign neoplasm 10.2 VEGFA SLC2A1 KDM4C H2AC18
45 eye degenerative disease 10.2 VEGFA KDM4C H2AC18
46 familial isolated hypoparathyroidism 10.2 VEGFA SLC2A1 KDM4C EGLN1
47 ifap syndrome 2 10.2
48 keratosis 10.2
49 blepharitis 10.2
50 autonomic nervous system neoplasm 10.2 VEGFA KDM4C H2AC18

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

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

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
2 sparse hair 31 very rare (1%) HP:0008070
3 hypohidrosis 31 occasional (7.5%) HP:0000966
4 corneal opacity 31 very rare (1%) HP:0007957
5 photophobia 31 very rare (1%) HP:0000613
6 brittle hair 31 very rare (1%) HP:0002299
7 hyperkeratosis 31 HP:0000962
8 hypotrichosis 58 Very frequent (99-80%)
9 blepharitis 31 HP:0000498
10 pili torti 31 HP:0003777
11 congenital ichthyosiform erythroderma 31 HP:0007431
12 curly hair 31 HP:0002212
13 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
corneal opacity
photophobia
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:
sparse hair
pili torti
curly hair
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 (Updated 05-Apr-2021)

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 29 ST14

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 11

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

40
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 11

Articles related to Ichthyosis, Congenital, Autosomal Recessive 11:

(show all 15)
# Title Authors PMID Year
1
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype. 57 6 61
18445049 2008
2
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. 6 57 61
17273967 2007
3
Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. 6 57
18843291 2009
4
Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report. 6 57
12207612 2002
5
Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? 57 6
9450882 1998
6
A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family. 6 61
29611532 2018
7
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 57
20643494 2010
8
Autosomal recessive congenital ichthyosis. 57
19434086 2009
9
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. 57
16436457 2006
10
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. 57
16116617 2005
11
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 57
12780701 2003
12
Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. 57
10712205 2000
13
Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes. 61
23900022 2014
14
Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. 61
18263585 2008
15
Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice. 61
17940283 2007

Variations for Ichthyosis, Congenital, Autosomal Recessive 11

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ST14 NM_021978.4(ST14):c.2479G>A (p.Gly827Arg) SNV Pathogenic 4038 rs137852931 GRCh37: 11:130079629-130079629
GRCh38: 11:130209734-130209734
2 ST14 NM_021978.4(ST14):c.3G>A (p.Met1Ile) SNV Pathogenic 4039 rs137852932 GRCh37: 11:130029877-130029877
GRCh38: 11:130159982-130159982
3 ST14 NM_021978.4(ST14):c.2269+1G>A SNV Pathogenic 126419 rs587777262 GRCh37: 11:130078580-130078580
GRCh38: 11:130208685-130208685
4 ST14 NM_021978.4(ST14):c.2034del (p.Leu678fs) Deletion Pathogenic 126420 rs587777263 GRCh37: 11:130078344-130078344
GRCh38: 11:130208449-130208449
5 ST14 NM_021978.4(ST14):c.1315G>A (p.Gly439Ser) SNV Likely pathogenic 979027 GRCh37: 11:130066556-130066556
GRCh38: 11:130196661-130196661
6 ST14 NM_021978.4(ST14):c.1113+15G>A SNV Benign 518237 rs597661 GRCh37: 11:130064647-130064647
GRCh38: 11:130194752-130194752
7 ST14 NM_021978.4(ST14):c.1215C>T (p.Asn405=) SNV Benign 518238 rs476106 GRCh37: 11:130066335-130066335
GRCh38: 11:130196440-130196440

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

72
# Symbol AA change Variation ID SNP ID
1 ST14 p.Gly827Arg VAR_032849 rs137852931

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

Pathways related to Ichthyosis, Congenital, Autosomal Recessive 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.54 VEGFA SLC2A1 EGLN1
2 11.25 VEGFA SLC2A1 EGLN1
3 11.06 VEGFA SLC2A1 EGLN1
4 10.7 VEGFA SLC2A1 EGLN1
5 10.6 VEGFA EPAS1
6 10.46 VEGFA SLC2A1 EPAS1 EGLN1

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 11

Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 surfactant homeostasis GO:0043129 9.16 VEGFA EPAS1
2 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.13 VEGFA EPAS1 EGLN1
3 response to hypoxia GO:0001666 8.92 VEGFA SLC2A1 EPAS1 EGLN1

Sources for Ichthyosis, Congenital, Autosomal Recessive 11

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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