ECTD4
MCID: ECT067
MIFTS: 40

Ectodermal Dysplasia 4, Hair/nail Type (ECTD4)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

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 72 29 13 6
Pure Hair and Nail Ectodermal Dysplasia 12 58 15
Ectodermal Dysplasia, Pure Hair-Nail Type 44 70
Ectd4 57 72
Ectodermal Dysplasia, 'pure' Hair/nail Type 57
Ectodermal Dysplasia Pure Hair-Nail Type 72
Dysplasia, Ectodermal, Type 4, Hair/nail 39
Ectodermal Dysplasia, Hair-Nail Type 36
Hair-Nail Ectodermal Dysplasia 58
Phned 58
Hned 58

Characteristics:

Orphanet epidemiological data:

58
pure hair and nail ectodermal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
three families described (last curated january 2014)


HPO:

31
ectodermal dysplasia 4, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111655
OMIM® 57 602032
OMIM Phenotypic Series 57 PS305100
KEGG 36 H00649
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C1865951
Orphanet 58 ORPHA69084
MedGen 41 C1865951
UMLS 70 C1865951

Summaries for Ectodermal Dysplasia 4, Hair/nail Type

UniProtKB/Swiss-Prot : 72 Ectodermal dysplasia 4, hair/nail type: 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 7, hair/nail type and ectodermal dysplasia 9, 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 Developmental Biology and Keratinization. Related phenotypes are sparse body hair and alopecia

Disease Ontology : 12 An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations.

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 05-Apr-2021)

KEGG : 36 Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously been associated with mutations in either KRT85, KRT74 or HOXC13.

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 all 39)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 7, hair/nail type 32.4 KRT85 KRT74 HOXC13 FOXN1
2 ectodermal dysplasia 9, hair/nail type 32.3 KRT85 KRT74 HOXC13-AS HOXC13 FOXN1
3 ectodermal dysplasia 5, hair/nail type 32.2 KRT85 KRT74 HOXC13 FOXN1 ECTD5
4 ectodermal dysplasia 6, hair/nail type 32.2 KRT85 KRT74 HOXC13 FOXN1 ECTD6
5 ectodermal dysplasia 31.1 KRT85 KRT74 HOXC13-AS HOXC13 EDARADD EDAR
6 alopecia 30.7 KRT86 KRT83 FOXN1
7 hypotrichosis 30.3 LPAR6 LIPH KRT86 KRT83 KRT74 KRT71
8 cleft lip/palate-ectodermal dysplasia syndrome 11.5
9 nail disorder, nonsyndromic congenital, 9 10.4
10 mucinoses 10.3 KRT74 KRT71
11 diffuse alopecia areata 10.3 LIPH KRT86
12 hypotrichosis, congenital, with juvenile macular dystrophy 10.3 LIPH KRT74
13 ectodermal dysplasia 10b 10.2 EDARADD EDAR
14 lacrimal duct obstruction 10.2
15 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 10.2 EDARADD EDAR
16 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 10.2 EDARADD EDAR
17 hypotrichosis 7 10.2 LPAR6 LIPH KRT74
18 anodontia 10.2 EDARADD EDAR
19 hypotrichosis 11 10.2 LPAR6 LIPH KRT74
20 hypotrichosis 13 10.2 LPAR6 LIPH KRT71
21 alopecia universalis congenita 10.2 KRT86 FOXN1
22 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.2 EDARADD EDAR
23 ankyloblepharon-ectodermal defects-cleft lip/palate 10.2 KRT83 EDAR
24 hypotrichosis 4 10.2 LPAR6 LIPH KRT74 HOXC13
25 naegeli-franceschetti-jadassohn syndrome 10.1 KRT86 KRT85 KRT83 KRT24
26 hypotrichosis 3 10.1 LPAR6 LIPH KRT74 KRT71
27 folliculitis 10.1
28 quinquaud folliculitis decalvans 10.1
29 t-cell immunodeficiency with thymic aplasia 10.1 KRT71 FOXN1
30 hypotrichosis 8 10.1 LPAR6 LIPH KRT85 KRT83 KRT74
31 sweat gland disease 10.0 EDARADD EDAR
32 atrichia with papular lesions 10.0 LPAR6 LIPH KRT86 KRT83 KRT74
33 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 10.0 LPAR6 LIPH KRT71 HOXC13 FOXN1
34 schopf-schulz-passarge syndrome 9.9 EDARADD EDAR
35 woolly hair, autosomal dominant 9.8 LPAR6 LIPH KRT85 KRT74 KRT71 KRT27
36 hypotrichosis 6 9.8 LPAR6 LIPH KRT86 KRT85 KRT83 KRT81
37 familial woolly hair syndrome 9.6 LPAR6 LIPH KRT86 KRT85 KRT83 KRT81
38 monilethrix 9.6 LPAR6 LIPH KRT86 KRT85 KRT83 KRT81
39 hair disease 9.5 LPAR6 LIPH KRT86 KRT83 KRT81 KRT74

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sparse body hair 31 occasional (7.5%) HP:0002231
2 alopecia 31 HP:0001596
3 absent eyelashes 31 HP:0000561
4 nail dystrophy 31 HP:0008404
5 pili torti 31 HP:0003777
6 onycholysis 31 HP:0001806
7 absent eyebrow 31 HP:0002223
8 brittle hair 31 HP:0002299
9 temporal hypotrichosis 31 HP:0004524
10 congenital onychodystrophy 31 HP:0008394
11 hair-nail ectodermal dysplasia 31 HP:0007436

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Hair:
alopecia
brittle hair (in some patients)
pili torti (in some patients)
sparse body hair (in some patients)
absent body hair

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 05-Apr-2021)

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.36 EDAR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.36 EDAR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.36 EDAR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.36 LIPH
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-199 9.36 LIPH
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-208 9.36 EDAR
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.36 EDAR
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.36 EDAR
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.36 EDAR
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-76 9.36 EDAR
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-83 9.36 LIPH

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 EDAR EDARADD FOXN1 HOXC13 KRT27 KRT71

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 29 KRT85

Anatomical Context for Ectodermal Dysplasia 4, Hair/nail Type

Publications for Ectodermal Dysplasia 4, Hair/nail Type

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

(show all 14)
# Title Authors PMID Year
1
Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. 6 57 61
19865094 2010
2
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. 6 57
16525032 2006
3
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 6 61
24714551 2014
4
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. 6 61
23315978 2013
5
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. 6 61
23063621 2012
6
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. 6 61
20409997 2010
7
Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. 57
1879585 1991
8
Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia. 61
31273852 2019
9
The disrupted balance between hair follicles and sebaceous glands in Hoxc13-ablated rabbits. 61
30125135 2019
10
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. 61
29278420 2018
11
Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. 61
28543635 2017
12
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. 61
28403827 2017
13
A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia. 61
28297138 2017
14
Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families. 61
23461661 2013

Variations for Ectodermal Dysplasia 4, Hair/nail Type

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXC13-AS , HOXC13 NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter) SNV Pathogenic 39781 rs398122913 GRCh37: 12:54333080-54333080
GRCh38: 12:53939296-53939296
2 overlap with 2 genes NM_017410.2(HOXC13):c.-24497_736+2389del Deletion Pathogenic 39782 GRCh37: 12:54308194-54335815
GRCh38: 12:53914410-53942031
3 KRT85 NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs) Deletion Pathogenic 102444 rs1565766888 GRCh37: 12:52754712-52754713
GRCh38: 12:52360928-52360929
4 KRT74 NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) SNV Pathogenic 96741 rs147962513 GRCh37: 12:52965165-52965165
GRCh38: 12:52571381-52571381
5 HOXC13-AS , HOXC13 NM_017410.3(HOXC13):c.1A>G (p.Met1Val) SNV Pathogenic 997613 GRCh37: 12:54332691-54332691
GRCh38: 12:53938907-53938907
6 KRT74 NM_175053.4(KRT74):c.853C>T (p.Gln285Ter) SNV Pathogenic 1034383 GRCh37: 12:52964608-52964608
GRCh38: 12:52570824-52570824
7 KRT74 NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) SNV Pathogenic 96741 rs147962513 GRCh37: 12:52965165-52965165
GRCh38: 12:52571381-52571381
8 HOXC13-AS , HOXC13 NM_017410.3(HOXC13):c.355del (p.Leu119fs) Deletion Pathogenic 50641 rs398122377 GRCh37: 12:54333043-54333043
GRCh38: 12:53939259-53939259
9 KRT85 NM_002283.4(KRT85):c.823T>C (p.Ser275Pro) SNV Uncertain significance 638425 rs1592141626 GRCh37: 12:52757158-52757158
GRCh38: 12:52363374-52363374
10 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:

72
# 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
12.77 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71
2
Show member pathways
11.68 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71

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 9.43 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71
2 intermediate filament GO:0005882 9.23 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 keratinization GO:0031424 9.56 KRT86 KRT85 KRT83 KRT81 KRT74 KRT71
2 epidermis development GO:0008544 9.46 KRT85 KRT83 FOXN1 EDAR
3 hair follicle development GO:0001942 9.43 HOXC13 FOXN1 EDAR
4 hair follicle morphogenesis GO:0031069 9.37 KRT71 KRT27
5 nail development GO:0035878 9.32 HOXC13 FOXN1
6 cornification GO:0070268 9.23 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 molecule activity GO:0005198 8.8 KRT85 KRT27 KRT24

Sources for Ectodermal Dysplasia 4, Hair/nail Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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