ECTD4
MCID: ECT067
MIFTS: 41

Ectodermal Dysplasia 4, Hair/nail Type (ECTD4)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ectodermal Dysplasia 4, Hair/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 4, Hair/nail Type:

Name: Ectodermal Dysplasia 4, Hair/nail Type 57 73 28 5
Pure Hair and Nail Ectodermal Dysplasia 11 58 14
Ectodermal Dysplasia, Pure Hair-Nail Type 43 71
Ectd4 57 73
Ectodermal Dysplasia, 'pure' Hair/nail Type 57
Ectodermal Dysplasia, 'pure' Hair-Nail Type 12
Ectodermal Dysplasia Pure Hair-Nail Type 73
Dysplasia, Ectodermal, Type 4, Hair/nail 38
Hair-Nail Ectodermal Dysplasia 58
Phned 58
Hned 58

Characteristics:


Inheritance:

Ectodermal Dysplasia 4, Hair/nail Type: Autosomal recessive 57
Pure Hair and Nail Ectodermal Dysplasia: Autosomal dominant,Autosomal recessive 58

Prevelance:

Pure Hair and Nail Ectodermal Dysplasia: <1/1000000 (Worldwide) 58

Age Of Onset:

Pure Hair and Nail Ectodermal Dysplasia: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
three families described (last curated january 2014)


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111655
OMIM® 57 602032
OMIM Phenotypic Series 57 PS305100
ICD10 via Orphanet 32 Q82.8
UMLS via Orphanet 72 C1865951
Orphanet 58 ORPHA69084
MedGen 40 C1865951
UMLS 71 C1865951

Summaries for Ectodermal Dysplasia 4, Hair/nail Type

UniProtKB/Swiss-Prot: 73 A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive.

MalaCards based summary: Ectodermal Dysplasia 4, Hair/nail Type, also known as pure hair and nail ectodermal dysplasia, is related to ectodermal dysplasia 9, hair/nail type and ectodermal dysplasia 7, hair/nail type. An important gene associated with Ectodermal Dysplasia 4, Hair/nail Type is KRT85 (Keratin 85), and among its related pathways/superpathways are Nervous system development and Keratinization. Affiliated tissues include skin, and related phenotypes are sparse body hair and alopecia

OMIM®: 57 Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. (602032) (Updated 08-Dec-2022)

Orphanet: 58 Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.

Disease Ontology: 11 An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations.

Related Diseases for Ectodermal Dysplasia 4, Hair/nail Type

Diseases in the Ectodermal Dysplasia 4, Hair/nail Type family:

Ectodermal Dysplasia 5, Hair/nail Type Ectodermal Dysplasia 6, Hair/nail Type
Ectodermal Dysplasia 7, Hair/nail Type Ectodermal Dysplasia 9, Hair/nail Type

Diseases related to Ectodermal Dysplasia 4, Hair/nail Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 9, hair/nail type 32.5 KRT85 KRT74 HOXC13 FOXN1
2 ectodermal dysplasia 7, hair/nail type 32.2 KRT85 KRT74 HOXC13 FOXN1 DSG4
3 ectodermal dysplasia 5, hair/nail type 32.1 KRT85 KRT74 HOXC13 FOXN1 ECTD5 DSG4
4 ectodermal dysplasia 6, hair/nail type 32.1 KRT85 KRT74 HOXC13 FOXN1 ECTD6 DSG4
5 ectodermal dysplasia 31.3 KRT85 KRT74 HOXC13 EDARADD EDAR
6 hypotrichosis 7 31.0 LPAR6 LIPH KRT74 DSG4
7 alopecia 30.8 KRT86 KRT83 FOXN1
8 hypotrichosis 30.2 LPAR6 LIPH KRT86 KRT83 KRT74 KRT71
9 cleft lip/palate-ectodermal dysplasia syndrome 11.5
10 nail disorder, nonsyndromic congenital, 9 10.4
11 hypotrichosis 1 10.4 LIPH KRT74
12 ectodermal dysplasia 10b 10.3 EDARADD EDAR
13 mucinoses 10.3 KRT74 KRT71
14 diffuse alopecia areata 10.3 LIPH KRT86
15 miliaria profunda 10.3 EDARADD EDAR
16 woolly hair, autosomal recessive 3 10.3 LPAR6 LIPH
17 white sponge nevus 1 10.3 KRT86 KRT85 KRT74
18 hypohidrotic ectodermal dysplasia autosomal recessive 10.2 EDARADD EDAR
19 lacrimal duct defect 10.2
20 lacrimal duct obstruction 10.2
21 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 10.2 EDARADD EDAR
22 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 10.2 EDARADD EDAR
23 pompholyx 10.2 EDARADD EDAR
24 anodontia 10.2 EDARADD EDAR
25 schopf-schulz-passarge syndrome 10.2 EDARADD EDAR
26 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.2 EDARADD EDAR
27 vertical talus, congenital 10.2 HOXC13 HOXC12
28 hypotrichosis 3 10.2 LPAR6 LIPH KRT74 KRT71
29 dermatopathia pigmentosa reticularis 10.2 KRT86 KRT85 KRT83 KRT24
30 nonsyndromic congenital nail disorder 10.2 KRT81 KRT74 KRT71 EDARADD
31 hypotrichosis simplex 10.2 LPAR6 LIPH DSG4
32 t-cell immunodeficiency with thymic aplasia 10.2 KRT71 FOXN1
33 hypotrichosis, congenital, with juvenile macular dystrophy 10.1 LPAR6 LIPH DSG4
34 nail disorder, nonsyndromic congenital, 4 10.1 KRT81 KRT74 KRT71 EDARADD
35 folliculitis 10.1
36 quinquaud folliculitis decalvans 10.1
37 naegeli-franceschetti-jadassohn syndrome 10.1 KRT86 KRT85 KRT83 KRT74 KRT24
38 ectodermal dysplasia 1, hypohidrotic, x-linked 10.1 EDARADD EDAR
39 hypotrichosis 4 10.1 LPAR6 LIPH KRT74 KRT71 HOXC13
40 hypotrichosis 11 10.1 LPAR6 LIPH KRT74 DSG4
41 sweat gland disease 10.1 EDARADD EDAR
42 hypotrichosis 13 10.0 LPAR6 LIPH KRT74 KRT71 DSG4
43 woolly hair, autosomal dominant 10.0 LPAR6 LIPH KRT85 KRT74 KRT71 KRT27
44 anhidrosis 10.0 EDARADD EDAR
45 hypotrichosis 8 9.9 LPAR6 LIPH KRT85 KRT83 KRT74 KRT71
46 atrichia with papular lesions 9.9 LPAR6 LIPH KRT86 KRT83 KRT74 FOXN1
47 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.9 LPAR6 LIPH KRT86 KRT71 HOXC13 FOXN1
48 hypotrichosis 2 9.9 LPAR6 LIPH KRT86 KRT83 KRT74 FOXN1
49 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.8 KRT86 KRT85 KRT83 KRT74 KRT71 KCTD1
50 hypotrichosis 6 9.7 LPAR6 LIPH KRT86 KRT85 KRT83 KRT81

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 4, Hair/nail Type:



Diseases related to Ectodermal Dysplasia 4, Hair/nail Type

Symptoms & Phenotypes for Ectodermal Dysplasia 4, Hair/nail Type

Human phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type:

30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse body hair 30 Occasional (7.5%) HP:0002231
2 alopecia 30 HP:0001596
3 absent eyelashes 30 HP:0000561
4 nail dystrophy 30 HP:0008404
5 pili torti 30 HP:0003777
6 absent eyebrow 30 HP:0002223
7 onycholysis 30 HP:0001806
8 brittle hair 30 HP:0002299
9 temporal hypotrichosis 30 HP:0004524
10 congenital onychodystrophy 30 HP:0008394
11 hair-nail ectodermal dysplasia 30 HP:0007436

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
alopecia
brittle hair (in some patients)
absent body hair
pili torti (in some patients)
sparse body hair (in some patients)

Skin Nails Hair Nails:
onycholysis
onychodystrophy
micronychia

Skin Nails Hair Skin:
normal sweating

Neurologic Central Nervous System:
no mental retardation

Head And Neck Eyes:
absent eyelashes
absent eyebrows

Head And Neck Teeth:
normal teeth

Metabolic Features:
normal sweating

Clinical features from OMIM®:

602032 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

25 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.64 LIPH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.64 EDAR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.64 LIPH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.64 KRT24
5 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.64 LIPH
6 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.64 EDAR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.64 LIPH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.64 KRT24
9 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.64 LIPH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.64 KRT24
11 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.64 LIPH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.64 LIPH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.64 KRT24
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 KRT24 LIPH
15 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.64 KRT24 LIPH
16 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.64 KRT24
17 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.64 EDAR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-94 9.64 EDAR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.64 EDAR

MGI Mouse Phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 DSG4 EDAR EDARADD FOXN1 LIPH
2 integument MP:0010771 9.32 DSG4 EDAR EDARADD FOXN1 HOXC13 KRT27

Drugs & Therapeutics for Ectodermal Dysplasia 4, Hair/nail Type

Search Clinical Trials, NIH Clinical Center for Ectodermal Dysplasia 4, Hair/nail Type

Cochrane evidence based reviews: ectodermal dysplasia, pure hair-nail type

Genetic Tests for Ectodermal Dysplasia 4, Hair/nail Type

Genetic tests related to Ectodermal Dysplasia 4, Hair/nail Type:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 4, Hair/nail Type 28 KRT85

Anatomical Context for Ectodermal Dysplasia 4, Hair/nail Type

Organs/tissues related to Ectodermal Dysplasia 4, Hair/nail Type:

MalaCards : Skin

Publications for Ectodermal Dysplasia 4, Hair/nail Type

Articles related to Ectodermal Dysplasia 4, Hair/nail Type:

(show all 27)
# Title Authors PMID Year
1
Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. 62 57 5
19865094 2010
2
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. 57 5
16525032 2006
3
Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. 57
1879585 1991
4
Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia. 62
31273852 2019
5
The disrupted balance between hair follicles and sebaceous glands in Hoxc13-ablated rabbits. 62
30125135 2019
6
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. 62
29278420 2018
7
Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. 62
28543635 2017
8
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. 62
28403827 2017
9
A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia. 62
28297138 2017
10
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 62
24714551 2014
11
Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families. 62
23461661 2013
12
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. 62
23315978 2013
13
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. 62
23063621 2012
14
Keratin disorders: from gene to therapy. 62
21890491 2011
15
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. 62
20409997 2010
16
Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family. 62
17489990 2007
17
Determination of the highest no-effect dose (HNED) and of the elimination pattern for cocaine in horses. 62
11920936 2002
18
Effects of caffeine on locomotor activity of horses: determination of the no-effect threshold. 62
11404835 2001
19
Ropivacaine in the horse: its pharmacological responses, urinary detection and mass spectral confirmation. 62
11442782 2001
20
[Hair-nail ectodermal dysplasia]. 62
11462681 2001
21
Bupivacaine in the horse: relationship of local anaesthetic responses and urinary concentrations of 3-hydroxybupivacaine. 62
10447829 1999
22
Testing for therapeutic medications: analytical/pharmacological relationships and limitations' on the sensitivity of testing for certain agents. 62
10447834 1999
23
Mepivacaine: its pharmacological effects and their relationship to analytical findings in the horse. 62
10372595 1999
24
Lidocaine in the horse: its pharmacological effects and their relationship to analytical findings. 62
9885969 1998
25
Family with "pure" hair-nail ectodermal dysplasia. 62
9295083 1997
26
Regulatory significance of procaine residues in plasma and urine samples: preliminary communication. 62
8706643 1996
27
Determination of highest no effect dose (HNED) for local anaesthetic responses to procaine, cocaine, bupivacaine and benzocaine. 62
8565951 1996

Variations for Ectodermal Dysplasia 4, Hair/nail Type

ClinVar genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT85 NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs) DEL Pathogenic
102444 rs1565766888 GRCh37: 12:52754712-52754713
GRCh38: 12:52360928-52360929
2 KRT74 NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) SNV Pathogenic
96741 rs147962513 GRCh37: 12:52965165-52965165
GRCh38: 12:52571381-52571381
3 KRT85 NM_002283.4(KRT85):c.823T>C (p.Ser275Pro) SNV Uncertain Significance
638425 rs1592141626 GRCh37: 12:52757158-52757158
GRCh38: 12:52363374-52363374
4 KRT85 NM_002283.4(KRT85):c.233G>A (p.Arg78His) SNV Benign
6836 rs61630004 GRCh37: 12:52760957-52760957
GRCh38: 12:52367173-52367173

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:

73
# Symbol AA change Variation ID SNP ID
1 KRT85 p.Arg78His VAR_029657 rs61630004

Expression for Ectodermal Dysplasia 4, Hair/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 4, Hair/nail Type.

Pathways for Ectodermal Dysplasia 4, Hair/nail Type

Pathways related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71
2
Show member pathways
11.81 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71
3 10.2 EDARADD EDAR

GO Terms for Ectodermal Dysplasia 4, Hair/nail Type

Cellular components related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 9.73 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71
2 intermediate filament GO:0005882 9.32 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71

Biological processes related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.86 KRT85 KRT83 FOXN1 EDAR
2 hair follicle development GO:0001942 9.76 HOXC13 FOXN1 EDAR DSG4
3 keratinization GO:0031424 9.73 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86
4 nail development GO:0035878 9.62 HOXC13 FOXN1
5 intermediate filament organization GO:0045109 9.47 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71

Molecular functions related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of skin epidermis GO:0030280 9.4 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71

Sources for Ectodermal Dysplasia 4, Hair/nail Type

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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