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HMI
MCID: HYP691
MIFTS: 57
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Hypomelanosis of Ito (HMI)
Categories:
Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Hypomelanosis of Ito:
Characteristics:Orphanet epidemiological data:59
nevus of ito
Inheritance: Not applicable; Age of onset: All ages;
ito hypomelanosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy; OMIM:57
Inheritance:
somatic mosaicism
Miscellaneous:
most cases sporadic heterogeneous a nonspecific marker of somatic mosaicism skin abnormalities can be present at birth or appear later in infancy or childhood seventy percent of cases have associated anomalies HPO:32Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Skin diseases
ICD10:
34
Orphanet: 59
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
53
Hypomelanosis of Ito, also called incontinentia pigmenti achromians, is a rare birth defect that causes streaked, whirled, or mottled patches of light-colored skin. These skin changes often develop within the first two years of life. Other symptoms may include varying degrees of learning disability, seizures, increased body hair, scoliosis, and strabismus. While the exact cause is not known, hypomelanosis of Ito syndrome is strongly linked to its genetics and many patients have chormosomal abnormalities. The disease may be caused by abnormal nerve termination in the involved areas of the skin.Girls tend to be affected more commonly than boys. Treatment depends on the problems that are presented.
MalaCards based summary : Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is related to vitiligo-associated multiple autoimmune disease susceptibility 1 and ehlers-danlos syndrome, and has symptoms including seizures, muscle weakness and polydipsia. An important gene associated with Hypomelanosis of Ito is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma), and among its related pathways/superpathways are Pathways in cancer and MAPK Pathway. Affiliated tissues include skin, eye and cerebellum, and related phenotypes are macrocephaly and hypertelorism Disease Ontology : 12 A skin disease. Wikipedia : 76 Incontinentia pigmenti achromians (also known as "hypomelanosis of Ito") is a cutaneous condition... more...
Description from OMIM:
300337
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300337Human phenotypes related to Hypomelanosis of Ito:59 32 (show top 50) (show all 60)
UMLS symptoms related to Hypomelanosis of Ito:seizures, muscle weakness, polydipsia, pruritus, exanthema, muscle spasticity GenomeRNAi Phenotypes related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Hypomelanosis of Ito:46
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Cochrane evidence based reviews: pigmentation disorders |
MalaCards organs/tissues related to Hypomelanosis of Ito:41
Skin,
Eye,
Cerebellum,
Kidney,
Brain,
Liver,
Thyroid
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Articles related to Hypomelanosis of Ito:(show top 50) (show all 189)
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Genes related to Hypomelanosis of Ito (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Hypomelanosis of Ito:6
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Search
GEO
for disease gene expression data for Hypomelanosis of Ito.
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Pathways related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:
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Biological processes related to Hypomelanosis of Ito according to GeneCards Suite gene sharing:
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