MCID: ODN009
MIFTS: 28

Odontoonychodermal Dysplasia

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

Aliases & Classifications for Odontoonychodermal Dysplasia

MalaCards integrated aliases for Odontoonychodermal Dysplasia:

Name: Odontoonychodermal Dysplasia 57 53 37 29 13 6 73
Oodd 57 59 75
Odonto-Onycho-Dermal Dysplasia 59 75
Tricho-Odonto-Onycho-Dermal Dysplasia 75
Dysplasia, Odontoonychodermal 40

Characteristics:

Orphanet epidemiological data:

59
odonto-onycho-dermal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
odontoonychodermal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Odontoonychodermal Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2721Disease definitionOdonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.EpidemiologyLess than 15 cases have been described so far.EtiologyHomozygousmutations have been described in the WNT10A gene in six patients born to three consanguineous families.Genetic counselingTransmission is autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Odontoonychodermal Dysplasia, also known as oodd, is related to ectodermal dysplasia and tooth agenesis, selective, 4. An important gene associated with Odontoonychodermal Dysplasia is WNT10A (Wnt Family Member 10A), and among its related pathways/superpathways are Wnt signaling pathway and Hedgehog signaling pathway. Affiliated tissues include skin and tongue, and related phenotypes are sparse and thin eyebrow and photophobia

UniProtKB/Swiss-Prot : 75 Odonto-onycho-dermal dysplasia: A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin.

Description from OMIM: 257980

Related Diseases for Odontoonychodermal Dysplasia

Diseases related to Odontoonychodermal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10.0
2 tooth agenesis, selective, 4 8.9 LOC107984111 WNT10A
3 schopf-schulz-passarge syndrome 8.6 LOC105373882 LOC107984111 WNT10A
4 tooth agenesis 8.5 LOC105373882 LOC107984111 WNT10A

Symptoms & Phenotypes for Odontoonychodermal Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperkeratosis
hyperhidrosis (palms and soles)
keratosis pilaris
palmar erythema
keratoderma (palms and soles)

Head And Neck Mouth:
smooth tongue
reduced fungiform papillae
reduced filiform papillae

Skin Nails Hair Nails:
dystrophic toenails
dystrophic fingernails (onychodysplasia)
congenital absence of nails (anonychia)

Skin Nails Hair Skin Histology:
orthokeratosis in epidermis
hyperkeratosis in epidermis
hypergranulosis in epidermis
acanthosis, mild, in epidermis

Skin Nails Hair Hair:
dry hair
sparse eyebrows
thin hair
hair is absent at birth
longitudinal depressions on microscopic examination

Head And Neck Eyes:
sparse eyebrows

Head And Neck Teeth:
severe hypodontia


Clinical features from OMIM:

257980

Human phenotypes related to Odontoonychodermal Dysplasia:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 sparse and thin eyebrow 32 very rare (1%) HP:0000535
2 photophobia 32 very rare (1%) HP:0000613
3 hypodontia 32 HP:0000668
4 abnormality of the skin 32 HP:0000951
5 dry skin 32 very rare (1%) HP:0000958
6 hypohidrosis 32 very rare (1%) HP:0000966
7 hyperhidrosis 32 very rare (1%) HP:0000975
8 anonychia 32 HP:0001798
9 dystrophic toenail 32 very rare (1%) HP:0001810
10 nail dysplasia 32 HP:0002164
11 sparse scalp hair 32 very rare (1%) HP:0002209
12 fine hair 32 HP:0002213
13 sparse body hair 32 very rare (1%) HP:0002231
14 agenesis of permanent teeth 32 very rare (1%) HP:0006349
15 abnormality of primary teeth 32 very rare (1%) HP:0006481
16 palmoplantar hyperhidrosis 32 HP:0007410
17 plantar hyperkeratosis 32 very rare (1%) HP:0007556
18 sparse hair 32 HP:0008070
19 dystrophic fingernails 32 HP:0008391
20 smooth tongue 32 HP:0010298
21 erythema 32 HP:0010783
22 dry hair 32 HP:0011359
23 epidermal acanthosis 32 HP:0025092

Drugs & Therapeutics for Odontoonychodermal Dysplasia

Search Clinical Trials , NIH Clinical Center for Odontoonychodermal Dysplasia

Genetic Tests for Odontoonychodermal Dysplasia

Genetic tests related to Odontoonychodermal Dysplasia:

# Genetic test Affiliating Genes
1 Odontoonychodermal Dysplasia 29 WNT10A

Anatomical Context for Odontoonychodermal Dysplasia

MalaCards organs/tissues related to Odontoonychodermal Dysplasia:

41
Skin, Tongue

Publications for Odontoonychodermal Dysplasia

Articles related to Odontoonychodermal Dysplasia:

# Title Authors Year
1
Variant of odontoonychodermal dysplasia? ( 8588594 )
1995
2
Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia. ( 6837628 )
1983

Variations for Odontoonychodermal Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Odontoonychodermal Dysplasia:

75
# Symbol AA change Variation ID SNP ID
1 WNT10A p.Arg128Gln VAR_062510 rs121908121
2 WNT10A p.Phe228Ile VAR_062511 rs121908120
3 WNT10A p.Ala131Val VAR_077448

ClinVar genetic disease variations for Odontoonychodermal Dysplasia:

6
(show top 50) (show all 130)
# Gene Variation Type Significance SNP ID Assembly Location
1 WNT10A NM_025216.2(WNT10A): c.697G> T (p.Glu233Ter) single nucleotide variant Pathogenic rs121908118 GRCh37 Chromosome 2, 219755026: 219755026
2 WNT10A NM_025216.2(WNT10A): c.697G> T (p.Glu233Ter) single nucleotide variant Pathogenic rs121908118 GRCh38 Chromosome 2, 218890304: 218890304
3 WNT10A NM_025216.2(WNT10A): c.321C> A (p.Cys107Ter) single nucleotide variant Pathogenic rs121908119 GRCh37 Chromosome 2, 219747090: 219747090
4 WNT10A NM_025216.2(WNT10A): c.321C> A (p.Cys107Ter) single nucleotide variant Pathogenic rs121908119 GRCh38 Chromosome 2, 218882368: 218882368
5 WNT10A NM_025216.2(WNT10A): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs121908121 GRCh37 Chromosome 2, 219754712: 219754712
6 WNT10A NM_025216.2(WNT10A): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic rs121908121 GRCh38 Chromosome 2, 218889990: 218889990
7 WNT10A NM_025216.2(WNT10A): c.1128C> A (p.Cys376Ter) single nucleotide variant Pathogenic rs121908122 GRCh37 Chromosome 2, 219757867: 219757867
8 WNT10A NM_025216.2(WNT10A): c.1128C> A (p.Cys376Ter) single nucleotide variant Pathogenic rs121908122 GRCh38 Chromosome 2, 218893145: 218893145
9 WNT10A NM_025216.2(WNT10A): c.27G> A (p.Trp9Ter) single nucleotide variant Pathogenic rs121908123 GRCh37 Chromosome 2, 219745744: 219745744
10 WNT10A NM_025216.2(WNT10A): c.27G> A (p.Trp9Ter) single nucleotide variant Pathogenic rs121908123 GRCh38 Chromosome 2, 218881022: 218881022
11 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh37 Chromosome 2, 219754840: 219754840
12 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh38 Chromosome 2, 218890118: 218890118
13 WNT10A NM_025216.2(WNT10A): c.-341A> G single nucleotide variant Uncertain significance rs762914440 GRCh38 Chromosome 2, 218880655: 218880655
14 WNT10A NM_025216.2(WNT10A): c.-341A> G single nucleotide variant Uncertain significance rs762914440 GRCh37 Chromosome 2, 219745377: 219745377
15 WNT10A NM_025216.2(WNT10A): c.-285C> T single nucleotide variant Uncertain significance rs886055636 GRCh38 Chromosome 2, 218880711: 218880711
16 WNT10A NM_025216.2(WNT10A): c.-285C> T single nucleotide variant Uncertain significance rs886055636 GRCh37 Chromosome 2, 219745433: 219745433
17 WNT10A NM_025216.2(WNT10A): c.-249G> C single nucleotide variant Uncertain significance rs571829301 GRCh38 Chromosome 2, 218880747: 218880747
18 WNT10A NM_025216.2(WNT10A): c.-249G> C single nucleotide variant Uncertain significance rs571829301 GRCh37 Chromosome 2, 219745469: 219745469
19 WNT10A NM_025216.2(WNT10A): c.-203dupC duplication Likely benign rs886055637 GRCh38 Chromosome 2, 218880793: 218880793
20 WNT10A NM_025216.2(WNT10A): c.-203dupC duplication Likely benign rs886055637 GRCh37 Chromosome 2, 219745515: 219745515
21 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh38 Chromosome 2, 218882196: 218882196
22 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh37 Chromosome 2, 219746918: 219746918
23 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh38 Chromosome 2, 218882255: 218882255
24 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh37 Chromosome 2, 219746977: 219746977
25 WNT10A NM_025216.2(WNT10A): c.349C> T (p.Pro117Ser) single nucleotide variant Uncertain significance rs144212422 GRCh38 Chromosome 2, 218882396: 218882396
26 WNT10A NM_025216.2(WNT10A): c.349C> T (p.Pro117Ser) single nucleotide variant Uncertain significance rs144212422 GRCh37 Chromosome 2, 219747118: 219747118
27 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh37 Chromosome 2, 219754822: 219754822
28 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh38 Chromosome 2, 218890100: 218890100
29 WNT10A NM_025216.2(WNT10A): c.652A> G (p.Met218Val) single nucleotide variant Uncertain significance rs373991357 GRCh37 Chromosome 2, 219754981: 219754981
30 WNT10A NM_025216.2(WNT10A): c.652A> G (p.Met218Val) single nucleotide variant Uncertain significance rs373991357 GRCh38 Chromosome 2, 218890259: 218890259
31 WNT10A NM_025216.2(WNT10A): c.756+13C> A single nucleotide variant Uncertain significance rs745958462 GRCh37 Chromosome 2, 219755098: 219755098
32 WNT10A NM_025216.2(WNT10A): c.756+13C> A single nucleotide variant Uncertain significance rs745958462 GRCh38 Chromosome 2, 218890376: 218890376
33 WNT10A NM_025216.2(WNT10A): c.756+14C> T single nucleotide variant Likely benign rs200733269 GRCh37 Chromosome 2, 219755099: 219755099
34 WNT10A NM_025216.2(WNT10A): c.756+14C> T single nucleotide variant Likely benign rs200733269 GRCh38 Chromosome 2, 218890377: 218890377
35 WNT10A NM_025216.2(WNT10A): c.1003G> A (p.Asp335Asn) single nucleotide variant Likely benign rs545956598 GRCh38 Chromosome 2, 218893020: 218893020
36 WNT10A NM_025216.2(WNT10A): c.1003G> A (p.Asp335Asn) single nucleotide variant Likely benign rs545956598 GRCh37 Chromosome 2, 219757742: 219757742
37 WNT10A NM_025216.2(WNT10A): c.*15C> T single nucleotide variant Uncertain significance rs886055645 GRCh38 Chromosome 2, 218893286: 218893286
38 WNT10A NM_025216.2(WNT10A): c.*15C> T single nucleotide variant Uncertain significance rs886055645 GRCh37 Chromosome 2, 219758008: 219758008
39 WNT10A NM_025216.2(WNT10A): c.-433C> G single nucleotide variant Uncertain significance rs886055633 GRCh38 Chromosome 2, 218880563: 218880563
40 WNT10A NM_025216.2(WNT10A): c.-433C> G single nucleotide variant Uncertain significance rs886055633 GRCh37 Chromosome 2, 219745285: 219745285
41 WNT10A NM_025216.2(WNT10A): c.315G> C (p.Trp105Cys) single nucleotide variant Uncertain significance rs886055642 GRCh38 Chromosome 2, 218882362: 218882362
42 WNT10A NM_025216.2(WNT10A): c.315G> C (p.Trp105Cys) single nucleotide variant Uncertain significance rs886055642 GRCh37 Chromosome 2, 219747084: 219747084
43 WNT10A NM_025216.2(WNT10A): c.498C> T (p.Asp166=) single nucleotide variant Uncertain significance rs143463683 GRCh37 Chromosome 2, 219754827: 219754827
44 WNT10A NM_025216.2(WNT10A): c.498C> T (p.Asp166=) single nucleotide variant Uncertain significance rs143463683 GRCh38 Chromosome 2, 218890105: 218890105
45 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh37 Chromosome 2, 219757556: 219757556
46 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh38 Chromosome 2, 218892834: 218892834
47 WNT10A NM_025216.2(WNT10A): c.841C> G (p.Pro281Ala) single nucleotide variant Likely benign rs541715493 GRCh37 Chromosome 2, 219757580: 219757580
48 WNT10A NM_025216.2(WNT10A): c.841C> G (p.Pro281Ala) single nucleotide variant Likely benign rs541715493 GRCh38 Chromosome 2, 218892858: 218892858
49 WNT10A NM_025216.2(WNT10A): c.1017C> T (p.Phe339=) single nucleotide variant Uncertain significance rs531326479 GRCh37 Chromosome 2, 219757756: 219757756
50 WNT10A NM_025216.2(WNT10A): c.1017C> T (p.Phe339=) single nucleotide variant Uncertain significance rs531326479 GRCh38 Chromosome 2, 218893034: 218893034

Expression for Odontoonychodermal Dysplasia

Search GEO for disease gene expression data for Odontoonychodermal Dysplasia.

Pathways for Odontoonychodermal Dysplasia

Pathways related to Odontoonychodermal Dysplasia according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310
2 Hedgehog signaling pathway hsa04340
3 Melanogenesis hsa04916
4 Pathways in cancer hsa05200

GO Terms for Odontoonychodermal Dysplasia

Sources for Odontoonychodermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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