KIDAR
MCID: KRT078
MIFTS: 27
|
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive (KIDAR)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
|
|
MalaCards integrated aliases for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 1 adult patient and 4 children under the age of 6 years (last curated january 2020) HPO:31
keratitis-ichthyosis-deafness syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Ear diseases Eye diseases |
OMIM :
56
Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients (Alsaif et al., 2019; Boyden et al., 2019).
An autosomal dominant form of KID syndrome (KIDAD; 148210) is caused by mutation in the GJB2 gene (121011) on chromosome 13q12. (242150)
MalaCards based summary : Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive, also known as kid syndrome, autosomal recessive, is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant, and has symptoms including photophobia An important gene associated with Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive is AP1B1 (Adaptor Related Protein Complex 1 Subunit Beta 1). Affiliated tissues include skin, bone marrow and bone, and related phenotypes are intellectual disability and sensorineural hearing impairment UniProtKB/Swiss-Prot : 73 Keratitis-ichthyosis-deafness syndrome, autosomal recessive: An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients. |
Diseases in the Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant family:
Diseases related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:
|
Human phenotypes related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:31 (show all 14)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:242150UMLS symptoms related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:photophobia |
|
MalaCards organs/tissues related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:40
Skin,
Bone Marrow,
Bone,
Tongue
|
Articles related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:
|
ClinVar genetic disease variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:6
UniProtKB/Swiss-Prot genetic disease variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:73
|
Search
GEO
for disease gene expression data for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive.
|
|
|