ECTD12
MCID: ECT094
MIFTS: 17

Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type (ECTD12)

Categories: Endocrine diseases, Genetic diseases, Oral diseases

Aliases & Classifications for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type:

Name: Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 58 76 6
Ectd12 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family (last curated february 2017)


HPO:

33
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

OMIM : 58 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. Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). (617337)

MalaCards based summary : Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type, is also known as ectd12. An important gene associated with Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type is KDF1 (Keratinocyte Differentiation Factor 1). Affiliated tissues include skin and eye, and related phenotypes are short philtrum and natal tooth

UniProtKB/Swiss-Prot : 76 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands.

Related Diseases for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

Symptoms & Phenotypes for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

Human phenotypes related to Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 short philtrum 33 occasional (7.5%) HP:0000322
2 natal tooth 33 occasional (7.5%) HP:0000695
3 hyperkeratosis 33 HP:0000962
4 nail dystrophy 33 HP:0008404
5 concave nasal ridge 33 HP:0011120
6 hypohidrosis 33 HP:0000966
7 hypoplastic sweat glands 33 HP:0007387
8 keratosis pilaris 33 HP:0032152
9 orthokeratosis 33 HP:0040162
10 acne inversa 33 HP:0040154

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
nail dystrophy
subungual hyperkeratosis, primarily of toenails
pincer nail deformity of great toes

Skin Nails Hair Skin:
keratosis pilaris
decreased sweating
hidradenitis suppurativa
accentuation of palmar creases

Head And Neck Teeth:
absent teeth
natal teeth (rare)

Skin Nails Hair Hair:
thinning of lateral eyebrows
lusterless scalp hair
irregular root sheath

Skin Nails Hair Skin Histology:
hypoplastic sweat glands
follicular plugging
epidermal orthokeratosis
epidermal papillomatosis
distorted follicular infundibulum

Head And Neck Nose:
saddle nose
everted nostrils (in some patients)

Head And Neck Eyes:
thinning of lateral eyebrows

Head And Neck Face:
short philtrum (in some patients)

Clinical features from OMIM:

617337

Drugs & Therapeutics for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

Genetic Tests for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

Anatomical Context for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

MalaCards organs/tissues related to Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type:

42
Skin, Eye

Publications for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

Articles related to Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type:

# Title Authors Year
1
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. ( 27838789 )
2017

Variations for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

ClinVar genetic disease variations for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KDF1 NM_152365.2(KDF1): c.753C> A (p.Phe251Leu) single nucleotide variant Pathogenic rs1057519508 GRCh37 Chromosome 1, 27278119: 27278119
2 KDF1 NM_152365.2(KDF1): c.753C> A (p.Phe251Leu) single nucleotide variant Pathogenic rs1057519508 GRCh38 Chromosome 1, 26951628: 26951628

Expression for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type.

Pathways for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

GO Terms for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

Sources for Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....