MCID: ICH051
MIFTS: 33

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 54 71 29
Autosomal Recessive Ichthyosis with Hypotrichosis 12 50 71
Ichthyosis and Follicular Atrophoderma with Hypotrichosis and Hypohidrosis 12 71
Ichthyosis-Follicular Atrophoderma-Hypotrichosis-Hypohidrosis Syndrome 12 56
Ichthyosis-Follicular Atrophoderma-Hypotrichosis Syndrome 12 56
Ichthyosis with Hypotrichosis, Autosomal Recessive 50 69
Autosomal Recessive Congenital Ichthyosis 11 12 14
Hypotrichosis-Congenital Ichthyosis Syndrome 12 56
Ichthyosis-Hypotrichosis Syndrome 12 56
Ifah Syndrome 12 56
Arih 50 71
Ihs 12 56
Ichthyosis with Hypotrichosis 13
Arci11 71
Ifah 71

Characteristics:

Orphanet epidemiological data:

56
ichthyosis-hypotrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
ichthyosis, congenital, autosomal recessive 11:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Ichthyosis, Congenital, Autosomal Recessive 11

OMIM : 54
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 autosomal recessive ichthyosis with hypotrichosis, is related to mucopolysaccharidosis ih and mucopolysaccharidosis ih/s, and has symptoms including ichthyosis, hypotrichosis and brittle hair. 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 4a Ichthyosis, Congenital, Autosomal Recessive 4b
Ichthyosis, Congenital, Autosomal Recessive 6 Ichthyosis, Congenital, Autosomal Recessive 10
Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 11
Ichthyosis, Congenital, Autosomal Recessive 7 Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Congenital, Autosomal Recessive 1 Ichthyosis, Congenital, Autosomal Recessive 9
Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Congenital, Autosomal Recessive 5 Ichthyosis, Congenital, Autosomal Recessive 12
Ichthyosis, Congenital, Autosomal Recessive 14 Autosomal Recessive Congenital Ichthyosis
Ichthyosis, Acquired Abca12-Related Autosomal Recessive Congenital Ichthyosis
Alox12b-Related Autosomal Recessive Congenital Ichthyosis Aloxe3-Related Autosomal Recessive Congenital Ichthyosis
Cyp4f22-Related Autosomal Recessive Congenital Ichthyosis Lipn-Related Autosomal Recessive Congenital Ichthyosis
Pnpla1-Related Autosomal Recessive Congenital Ichthyosis St14-Related Autosomal Recessive Congenital Ichthyosis
Tgm1-Related Autosomal Recessive Congenital Ichthyosis

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis ih 12.3
2 mucopolysaccharidosis ih/s 12.2
3 congenital disorder of glycosylation, type ih 12.1
4 amelogenesis imperfecta, type ih 12.1
5 mucopolysaccharidosis is 11.6
6 hemangioma 11.1
7 idiopathic hypersomnia 11.1
8 st14-related autosomal recessive congenital ichthyosis 11.1
9 usher syndrome type 1h 10.8
10 usher syndrome, type 1d 10.8
11 macular corneal dystrophy 10.8
12 intermittent hydrarthrosis 10.8
13 hypotrichosis 10.2
14 ichthyosis 10.2
15 headache 10.0
16 neuronitis 9.9
17 tolosa-hunt syndrome 9.9
18 hypereosinophilic syndrome 9.8
19 cluster headache 9.8
20 hemochromatosis 9.6
21 arthritis 9.6
22 intracranial hypotension 9.6
23 dilated cardiomyopathy 9.6
24 hepatitis 9.6
25 rheumatoid arthritis 9.6
26 temporal lobe epilepsy 9.6
27 hemicrania continua 9.6
28 porphyria cutanea tarda 9.6
29 familial hemiplegic migraine 9.6
30 hemiplegic migraine 9.6
31 hepatitis c virus 9.6
32 leukodystrophy 9.6
33 phace syndrome 9.6
34 heart disease 9.6
35 cardiomyopathy 9.6
36 porphyria 9.6
37 febrile seizures 9.6
38 epilepsy 9.6
39 hypoxia 9.6
40 hepatitis c 9.6
41 metachromatic leukodystrophy 9.6
42 histiocytosis 9.6
43 spontaneous intracranial hypotension 9.6
44 catecholaminergic polymorphic ventricular tachycardia 5 7.6 COL23A1 OR5K1 SPATA17 ST14 TAS2R16 TMEM33
45 congenital short bowel syndrome 5.3 COL23A1 FOXI1 GLCCI1 KLHL7 LYST OR5K1

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:

54

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

Growth- Weight:
normal birth weight

Skin Nails & Hair- Skin Histology:
marked acanthosis
thickened stratum corneum
orthohyperkeratosis in stratum corneum
thinned hair follicle epithelium
hyperkeratosis of hair infundibulum
more
Head And Neck- Eyes:
photophobia
sparse eyebrows
blepharitis
corneal opacity
long, curly dark upper eyelashes (in some patients)
more
Skin Nails & Hair- Skin:
hypohidrosis (in some patients)
ichthyosis, congenital
vernix-like skin covering, present at birth, shed during first month of life (in some patients)
follicular atrophoderma (in some patients)

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:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008064
2 hypotrichosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001006
3 brittle hair 32 HP:0002299
4 sparse hair 32 HP:0008070
5 photophobia 32 HP:0000613
6 curly hair 32 HP:0002212
7 pili torti 32 HP:0003777
8 hypohidrosis 32 occasional (7.5%) HP:0000966
9 blepharitis 32 HP:0000498
10 corneal opacity 32 HP:0007957
11 congenital ichthyosiform erythroderma 32 HP:0007431
12 sparse and thin eyebrow 32 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:

id Genetic test Affiliating Genes
1 Ichthyosis, Congenital, Autosomal Recessive 11 29

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 11

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

39
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 11

Variations for Ichthyosis, Congenital, Autosomal Recessive 11

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 ST14 NM_021978.3(ST14): c.2479G> A (p.Gly827Arg) single nucleotide variant Pathogenic rs137852931 GRCh37 Chromosome 11, 130079629: 130079629
2 ST14 NM_021978.3(ST14): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs137852932 GRCh37 Chromosome 11, 130029877: 130029877
3 ST14 NM_021978.3(ST14): c.2269+1G> A single nucleotide variant Pathogenic rs587777262 GRCh38 Chromosome 11, 130208685: 130208685
4 ST14 NM_021978.3(ST14): c.2034delG (p.Leu678Phefs) deletion Pathogenic rs587777263 GRCh38 Chromosome 11, 130208449: 130208449

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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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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