EDFAOB
MCID: ECT113
MIFTS: 14

Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies (EDFAOB)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

MalaCards integrated aliases for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies:

Name: Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies 56
Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies, Somatic Mosaic 56 6
Edfaob 56

Characteristics:

OMIM:

56
Inheritance:
somatic mosaicism


Classifications:



External Ids:

OMIM 56 618727

Summaries for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

OMIM : 56 EDFAOB is characterized by linear hypopigmentation and craniofacial asymmetry in association with ocular, dental, and acral anomalies. Brain imaging has revealed some abnormalities, including diffuse cystic leukoencephalopathy and mildly enlarged lateral ventricles, but patients show no intellectual or neurologic impairment (Vabres et al., 2019). (618727)

MalaCards based summary : Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies, is also known as ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic. An important gene associated with Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies is RHOA (Ras Homolog Family Member A). Affiliated tissues include brain.

Related Diseases for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

Symptoms & Phenotypes for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
clinodactyly
brachydactyly

Head And Neck Eyes:
strabismus
myopia
reduced visual acuity
astigmatism
narrow palpebral fissure, unilateral
more
Head And Neck Teeth:
oligodontia
malocclusion
conical teeth
microdontia (deciduous and permanent teeth)
unilateral premature eruption of teeth (uncommon)
more
Head And Neck Nose:
broad nasal bridge
thick alae nasi

Head And Neck Neck:
linear hypopigmentation

Neurologic Central Nervous System:
diffuse cystic leukoencephalopathy
lateral ventricles mildly enlarged
no intellectual deficiency
no neurologic impairment

Skeletal Feet:
clinodactyly
sandal gap
broad first toes
short toes (especially of 2nd, 3rd, and 4th toes)
syndactyly (uncommon)
more
Head And Neck Face:
facial asymmetry
hemifacial microsomia
malar hypoplasia, unilateral

Skin Nails Hair Skin:
scarring alopecia of scalp
linear hypopigmentation on neck and limbs

Skin Nails Hair Hair:
pilar dysplasia (in some patients)
patchy scalp hair

Skeletal Limbs:
asymmetric lower limb length (in some patients)

Clinical features from OMIM:

618727

Drugs & Therapeutics for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies

Genetic Tests for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

Anatomical Context for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

MalaCards organs/tissues related to Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies:

40
Brain

Publications for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

Articles related to Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies:

# Title Authors PMID Year
1
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. 56 6
31570889 2019

Variations for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

ClinVar genetic disease variations for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RHOA NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)SNV Pathogenic 695069 3:49412884-49412884 3:49375451-49375451
2 RHOA NM_001664.4(RHOA):c.211C>T (p.Pro71Ser)SNV Pathogenic 801330 3:49405927-49405927 3:49368494-49368494

Expression for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

Search GEO for disease gene expression data for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies.

Pathways for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

GO Terms for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

Sources for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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