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MCID: KRT065
MIFTS: 18
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Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
Categories:
Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:
Name: Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
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Characteristics:Orphanet epidemiological data:58
keratosis follicularis-dwarfism-cerebral atrophy syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31
keratosis follicularis, dwarfism, and cerebral atrophy:
Inheritance x-linked inheritance Clinical modifier death in childhood Classifications:
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare skin diseases |
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2339 Definition A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability , inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Visit the Orphanet disease page for more resources.
MalaCards based summary : Keratosis Follicularis, Dwarfism, and Cerebral Atrophy, also known as keratosis follicularis-dwarfism-cerebral atrophy syndrome, is related to darier-white disease and keratosis. Affiliated tissues include skin, and related phenotypes are microcephaly and absent eyelashes
More information from OMIM:
308830
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Diseases related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:58 31 (show all 6)
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Genetic tests related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:
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MalaCards organs/tissues related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:40
Skin
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Articles related to Keratosis Follicularis, Dwarfism, and Cerebral Atrophy:
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Search
GEO
for disease gene expression data for Keratosis Follicularis, Dwarfism, and Cerebral Atrophy.
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