MCID: UNC015
MIFTS: 21

Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

MalaCards integrated aliases for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly:

Name: Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 56 52
Bork Syndrome 56 52 58
Bork Stender Schmidt Syndrome 52 71
Uncombable Hair-Retinal Pigmentary Dystrophy-Dental Anomalies-Brachydactyly Syndrome 58
Tricho-Retino-Dento-Digital Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
tricho-retino-dento-digital syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM 56 191482
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 72 C1860605
Orphanet 58 ORPHA1264
MedGen 41 C1860605
UMLS 71 C1860605

Summaries for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1264 Definition Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract , retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. Visit the Orphanet disease page for more resources.

MalaCards based summary : Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly, also known as bork syndrome, is related to uncombable hair syndrome 1 and brachydactyly. Affiliated tissues include skin and eye, and related phenotypes are brachydactyly and abnormality of retinal pigmentation

More information from OMIM: 191482

Related Diseases for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

Diseases related to Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 uncombable hair syndrome 1 11.3
2 brachydactyly 10.5
3 tooth agenesis 10.5
4 ectodermal dysplasia 10.5
5 hypotrichosis 10.5
6 cataract 10.5

Graphical network of the top 20 diseases related to Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly:



Diseases related to Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly

Symptoms & Phenotypes for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

Human phenotypes related to Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
2 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
3 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001006
4 juvenile cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0001118
5 uncombable hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0030056
6 increased number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011069
7 oligodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000677
8 short 5th metacarpal 58 31 occasional (7.5%) Occasional (29-5%) HP:0010047
9 abnormality of the dentition 58 Very frequent (99-80%)
10 rod-cone dystrophy 31 HP:0000510
11 short metacarpal 31 HP:0010049
12 microdontia 31 HP:0000691
13 short toe 31 HP:0001831
14 hypospadias 31 HP:0000047
15 abnormality of the hand 58 Frequent (79-30%)
16 pili canaliculi 31 HP:0002235
17 short proximal phalanx of finger 31 HP:0010241

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
brachydactyly
short metacarpals
short proximal phalanges

Head And Neck Teeth:
microdontia
oligodontia
supernumerary teeth

Skin Nails Hair Hair:
pili canaliculi
uncombable hair
pili trianguli

Skeletal Feet:
brachydactyly

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Eyes:
juvenile cataract
retinal pigmentary dystrophy

Clinical features from OMIM:

191482

Drugs & Therapeutics for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

Search Clinical Trials , NIH Clinical Center for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly

Genetic Tests for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

Anatomical Context for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

MalaCards organs/tissues related to Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly:

40
Skin, Eye

Publications for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

Articles related to Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly:

# Title Authors PMID Year
1
Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings. 61 56
8279493 1993
2
[Familial congenital hypotrichosis with "uncombable hair," retinal pigmentary dystrophy, juvenile cataract and brachymetacarpia: another entity of the ectodermal dysplasia group]. 56
3654205 1987

Variations for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

Expression for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

Search GEO for disease gene expression data for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly.

Pathways for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

GO Terms for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

Sources for Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies,...

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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