ARCI4B
MCID: ICH069
MIFTS: 51
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Ichthyosis, Congenital, Autosomal Recessive 4b (ARCI4B)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 4b:
Characteristics:Orphanet epidemiological data:58
harlequin ichthyosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
patients are susceptible to sepsis and dehydration patients are prone to impaired thermoregulation usually fatal within the first few weeks of life surviving infants develop severe nonbullous ichthyosiform erythroderma HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Skin diseases
ICD10:
32
33
Orphanet: 58
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OMIM :
56
Harlequin ichthyosis is a rare severe form of congenital ichthyosis, which may be fatal. The neonate is encased in an 'armor' of thick scale plates separated by deep fissures. There is bilateral ectropion and eclabium, and the nose and ears are flattened and appear rudimentary. Constricting bands around the extremities can restrict movement and cause digital necrosis. As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation. Treatment with oral retinoids encourages shedding of the grossly thickened skin. Babies who survive into infancy and beyond develop skin changes resembling severe nonbullous congenital ichthyosiform erythroderma (see 242300) (summary by Rajpopat et al., 2011).
At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass lamellar ichthyosis (LI), nonbullous congenital ichthyosis erythroderma (NCIE), and harlequin ichthyosis (Oji et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (242500)
MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 4b, also known as harlequin ichthyosis, is related to ichthyosis, congenital, autosomal recessive 2 and ichthyosis, congenital, autosomal recessive 4a. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 4b is ABCA12 (ATP Binding Cassette Subfamily A Member 12), and among its related pathways/superpathways are ABC transporters and Keratinization. Affiliated tissues include skin, eye and heart, and related phenotypes are recurrent respiratory infections and hyperkeratosis Disease Ontology : 12 An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has material basis in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. Genetics Home Reference : 25 Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure. The skin normally forms a protective barrier between the body and its surrounding environment. The skin abnormalities associated with harlequin ichthyosis disrupt this barrier, making it more difficult for affected infants to control water loss, regulate their body temperature, and fight infections. Infants with harlequin ichthyosis often experience an excessive loss of fluids (dehydration) and develop life-threatening infections in the first few weeks of life. It used to be very rare for affected infants to survive the newborn period. However, with intensive medical support and improved treatment, people with this disorder now have a better chance of living into childhood and adolescence. NIH Rare Diseases : 52 Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern. KEGG : 36 Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborn with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion, and impaired contraction of ears and limbs. HI is associated with truncations/deletions in ABCA12, an ATP-binding cassette (ABC) transporters with lipid transporter activity in keratinocytes. UniProtKB/Swiss-Prot : 73 Ichthyosis, congenital, autosomal recessive 4B: A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. Wikipedia : 74 Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire... more... |
Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 4b:58 31 (show all 23)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:242500 |
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MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 4b:40
Skin,
Eye,
Heart,
Testes
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Articles related to Ichthyosis, Congenital, Autosomal Recessive 4b:(show top 50) (show all 227)
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ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 4b:6 (show all 20)
UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 4b:73
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Search
GEO
for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 4b.
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Pathways related to Ichthyosis, Congenital, Autosomal Recessive 4b according to KEGG:36
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Cellular components related to Ichthyosis, Congenital, Autosomal Recessive 4b according to GeneCards Suite gene sharing:
Biological processes related to Ichthyosis, Congenital, Autosomal Recessive 4b according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Ichthyosis, Congenital, Autosomal Recessive 4b according to GeneCards Suite gene sharing:
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