EDFAOB
MCID: ECT113
MIFTS: 19

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 73
Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies, Somatic Mosaic 56 6
Edfaob 56 73

Characteristics:

OMIM:

56
Inheritance:
somatic mosaicism


HPO:

31
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies:
Inheritance somatic mosaicism
Onset and clinical course congenital onset


Classifications:



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, and related phenotypes are cataract and dental malocclusion

UniProtKB/Swiss-Prot : 73 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies: A neuroectodermal syndrome characterized by linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Patients show no intellectual or neurologic impairment.

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

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

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

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 cataract 31 very rare (1%) HP:0000518
2 dental malocclusion 31 very rare (1%) HP:0000689
3 wide nasal bridge 31 very rare (1%) HP:0000431
4 optic atrophy 31 very rare (1%) HP:0000648
5 thick nasal alae 31 very rare (1%) HP:0009928
6 nystagmus 31 very rare (1%) HP:0000639
7 strabismus 31 very rare (1%) HP:0000486
8 microdontia 31 very rare (1%) HP:0000691
9 myopia 31 very rare (1%) HP:0000545
10 glaucoma 31 very rare (1%) HP:0000501
11 brachydactyly 31 very rare (1%) HP:0001156
12 sandal gap 31 very rare (1%) HP:0001852
13 microphthalmia 31 very rare (1%) HP:0000568
14 malar flattening 31 very rare (1%) HP:0000272
15 astigmatism 31 very rare (1%) HP:0000483
16 ectopia pupillae 31 very rare (1%) HP:0009918
17 persistence of primary teeth 31 very rare (1%) HP:0006335
18 oligodontia 31 very rare (1%) HP:0000677
19 conical tooth 31 very rare (1%) HP:0000698
20 hypoplasia of dental enamel 31 very rare (1%) HP:0006297
21 clinodactyly 31 very rare (1%) HP:0030084
22 unilateral narrow palpebral fissure 31 very rare (1%) HP:0007946
23 scarring alopecia of scalp 31 very rare (1%) HP:0004552
24 broad hallux 31 very rare (1%) HP:0010055
25 3-4 toe syndactyly 31 very rare (1%) HP:0009779
26 hemifacial hypoplasia 31 very rare (1%) HP:0011332
27 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
strabismus
myopia
reduced visual acuity
astigmatism
narrow palpebral fissure, unilateral
more
Skeletal Feet:
sandal gap
clinodactyly
broad first toes
short toes (especially of 2nd, 3rd, and 4th toes)
syndactyly (uncommon)
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 Hands:
brachydactyly
clinodactyly

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

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia with Facial Dysmorphism and Acral, Ocular, and Brain Anomalies:

73
# Symbol AA change Variation ID SNP ID
1 RHOA p.Glu47Lys VAR_083545
2 RHOA p.Pro71Ser VAR_083546

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,...

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