MCID: ODN021
MIFTS: 15

Odontotrichoungual-Digital-Palmar Syndrome

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

Aliases & Classifications for Odontotrichoungual-Digital-Palmar Syndrome

MalaCards integrated aliases for Odontotrichoungual-Digital-Palmar Syndrome:

Name: Odontotrichoungual-Digital-Palmar Syndrome 56 71
Otudp Syndrome 56 58
Odonto-Tricho-Ungual-Digito-Palmar Syndrome, Mendoza-Valiente Type 58
Odonto-Tricho-Ungual-Digito-Palmar Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
odonto-tricho-ungual-digito-palmar syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
odontotrichoungual-digital-palmar syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 56 601957
UMLS via Orphanet 72 C1865998
Orphanet 58 ORPHA69082
MedGen 41 C1865998
UMLS 71 C1865998

Summaries for Odontotrichoungual-Digital-Palmar Syndrome

MalaCards based summary : Odontotrichoungual-Digital-Palmar Syndrome, is also known as otudp syndrome. Affiliated tissues include skin, and related phenotypes are mandibular prognathia and dental malocclusion

More information from OMIM: 601957

Related Diseases for Odontotrichoungual-Digital-Palmar Syndrome

Symptoms & Phenotypes for Odontotrichoungual-Digital-Palmar Syndrome

Human phenotypes related to Odontotrichoungual-Digital-Palmar Syndrome:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 31 HP:0000303
2 dental malocclusion 31 HP:0000689
3 thick vermilion border 31 HP:0012471
4 brachydactyly 31 HP:0001156
5 short distal phalanx of finger 31 HP:0009882
6 nail dysplasia 31 HP:0002164
7 short 1st metacarpal 31 HP:0010034
8 single transverse palmar crease 31 HP:0000954
9 nail dystrophy 31 HP:0008404
10 short distal phalanx of toe 31 HP:0001857
11 abnormality of hair texture 31 HP:0010719
12 hypopigmentation of the skin 31 HP:0001010
13 natal tooth 31 HP:0000695
14 short first metatarsal 31 HP:0010105
15 prominent interdigital folds 31 HP:0006189

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
brachydactyly
prominent interdigital folds
single transverse palmar creases
first metacarpal hypoplasia
single thumb creases

Skin Nails Hair Nails:
nail dystrophy

Head And Neck Teeth:
malocclusion
natal teeth

Skin Nails Hair Hair:
trichodystrophy
straw-like fragile hair
irregular diameter of hair shaft with hypopigmentation and tendency to fracture (light microscopy)

Skeletal Feet:
brachydactyly
hypoplastic distal phalanges
first metatarsal hypoplasia

Head And Neck Face:
prognathism

Head And Neck Mouth:
thick, coarse lips

Clinical features from OMIM:

601957

Drugs & Therapeutics for Odontotrichoungual-Digital-Palmar Syndrome

Search Clinical Trials , NIH Clinical Center for Odontotrichoungual-Digital-Palmar Syndrome

Genetic Tests for Odontotrichoungual-Digital-Palmar Syndrome

Anatomical Context for Odontotrichoungual-Digital-Palmar Syndrome

MalaCards organs/tissues related to Odontotrichoungual-Digital-Palmar Syndrome:

40
Skin

Publications for Odontotrichoungual-Digital-Palmar Syndrome

Articles related to Odontotrichoungual-Digital-Palmar Syndrome:

# Title Authors PMID Year
1
A newly recognized autosomal dominant ectodermal dysplasia syndrome: the odonto-tricho-ungual-digital-palmar syndrome. 56
9217212 1997

Variations for Odontotrichoungual-Digital-Palmar Syndrome

Expression for Odontotrichoungual-Digital-Palmar Syndrome

Search GEO for disease gene expression data for Odontotrichoungual-Digital-Palmar Syndrome.

Pathways for Odontotrichoungual-Digital-Palmar Syndrome

GO Terms for Odontotrichoungual-Digital-Palmar Syndrome

Sources for Odontotrichoungual-Digital-Palmar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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