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MCID: LNR018
MIFTS: 8
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Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies
Categories:
Bone diseases, Fetal diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...
MalaCards integrated aliases for Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies:
Name: Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies
58
Characteristics:Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Anatomical: Bone diseases Skin diseases Oral diseases Neuronal diseases
Orphanet: 58
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases External Ids:
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Orphanet: 58 A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation. MalaCards based summary: Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies, is also known as rhoa-related mosaic ectodermal dysplasia. An important gene associated with Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies is RHOA (Ras Homolog Family Member A). Affiliated tissues include brain, skin and bone. |
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Organs/tissues related to Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies:
MalaCards :
Brain,
Skin,
Bone
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Genes related to Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies.
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