MCID: LNR018
MIFTS: 8

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
Rhoa-Related Mosaic Ectodermal Dysplasia 58

Characteristics:


Prevelance:

<1/1000000 (Worldwide) 58

Classifications:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


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Orphanet 58 ORPHA589608

Summaries for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...

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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Symptoms & Phenotypes for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...

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Anatomical Context for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...

Organs/tissues related to Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies:

MalaCards : Brain, Skin, Bone

Publications for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...

Variations for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...

Expression for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...

Search GEO for disease gene expression data for Linear Hypopigmentation and Craniofacial Asymmetry with Acral, Ocular and Brain Anomalies.

Pathways for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...

GO Terms for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...

Sources for Linear Hypopigmentation and Craniofacial Asymmetry with Acral,...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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