ECTD12
MCID: ECT094
MIFTS: 19

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 57 12 72 29 6
Ectd12 57 12 72
Ectodermal Dysplasia 12 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111652
OMIM® 57 617337
OMIM Phenotypic Series 57 PS305100
MeSH 44 D004476

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

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. 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) (Updated 20-May-2021)

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). Related phenotypes are short philtrum and natal tooth

Disease Ontology : 12 A hypohidrotic ectodermal dysplasia that has material basis in heterozygous mutation in KDF1 on chromosome 1p36.11.

UniProtKB/Swiss-Prot : 72 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 short philtrum 31 occasional (7.5%) HP:0000322
2 natal tooth 31 occasional (7.5%) HP:0000695
3 hyperkeratosis 31 HP:0000962
4 hypohidrosis 31 HP:0000966
5 nail dystrophy 31 HP:0008404
6 concave nasal ridge 31 HP:0011120
7 hypoplastic sweat glands 31 HP:0007387
8 acne inversa 31 HP:0040154
9 keratosis pilaris 31 HP:0032152
10 orthokeratosis 31 HP:0040162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

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

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 29 KDF1

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

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

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

# Title Authors PMID Year
1
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. 57 6
27838789 2017
2
Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells. 57
24075906 2013
3
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 57
20979233 2011

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 Name Type Significance ClinVarId dbSNP ID Position
1 KDF1 NM_152365.3(KDF1):c.753C>A (p.Phe251Leu) SNV Pathogenic 375476 rs1057519508 GRCh37: 1:27278119-27278119
GRCh38: 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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