MCID: UNC015
MIFTS: 22

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

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases
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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 57 19
Bork Syndrome 57 19 58
Bork Stender Schmidt Syndrome 19 71
Uncombable Hair-Retinal Pigmentary Dystrophy-Dental Anomalies-Brachydactyly Syndrome 58
Tricho-Retino-Dento-Digital Syndrome 58

Characteristics:


Inheritance:

Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly: Autosomal dominant 57
Tricho-Retino-Dento-Digital Syndrome: Autosomal dominant 58

Prevelance:

Tricho-Retino-Dento-Digital Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Tricho-Retino-Dento-Digital Syndrome: Neonatal 58

Classifications:

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


External Ids:

OMIM® 57 191482
ICD10 via Orphanet 32 Q82.4
UMLS via Orphanet 72 C1860605
Orphanet 58 ORPHA1264
MedGen 40 C1860605
UMLS 71 C1860605

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

Orphanet: 58 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.

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 hypotrichosis 7. Affiliated tissues include skin and eye, and related phenotypes are abnormality of retinal pigmentation and brachydactyly

GARD: 19 An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia 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.

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 11.1
2 hypotrichosis 7 10.5
3 brachydactyly 10.5
4 tooth agenesis 10.5
5 ectodermal dysplasia 10.5
6 hypotrichosis 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 30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007703
2 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
3 juvenile cataract 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001118
4 uncombable hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030056
5 sparse hair 30 Hallmark (90%) HP:0008070
6 oligodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000677
7 supernumerary tooth 30 Frequent (33%) HP:0011069
8 short 5th metacarpal 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010047
9 abnormality of the dentition 58 Very frequent (99-80%)
10 hypotrichosis 58 Very frequent (99-80%)
11 increased number of teeth 58 Frequent (79-30%)
12 abnormality of the hand 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Teeth:
microdontia
oligodontia
supernumerary teeth

Skeletal Feet:
brachydactyly

Head And Neck Eyes:
juvenile cataract
retinal pigmentary dystrophy

Skeletal Hands:
brachydactyly
short metacarpals
short proximal phalanges

Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Hair:
uncombable hair
pili canaliculi
pili trianguli

Clinical features from OMIM®:

191482 (Updated 24-Oct-2022)

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,...

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

MalaCards : 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. 62 57
8279493 1993
2
[Familial congenital hypotrichosis with "uncombable hair," retinal pigmentary dystrophy, juvenile cataract and brachymetacarpia: another entity of the ectodermal dysplasia group]. 57
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,...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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