TKCR
MCID: TRT015
MIFTS: 21

Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia (TKCR)

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

MalaCards integrated aliases for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia:

Name: Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 57 70
Goeminne Syndrome 57 20
Tkcr Syndrome 57 20
Tkc 57 20
Torticollis-Keloids-Cryptorchidism-Renal Dysplasia Syndrome 58
Torticollis, Keloids, Cryptorchidism and Renal Dysplasia 13
Torticollis Keloids Cryptorchidism Renal Dysplasia 20
Goeminne Tkcr Syndrome 57
Tkcr 57

Characteristics:

Orphanet epidemiological data:

58
torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked with incomplete dominance (xq28)


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 314300
MESH via Orphanet 45 C536970
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1839129
Orphanet 58 ORPHA3341
MedGen 41 C1839129
UMLS 70 C1839129

Summaries for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3341 Definition Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.

MalaCards based summary : Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia, also known as goeminne syndrome, is related to torticollis and cryptorchidism, unilateral or bilateral, and has symptoms including torticollis An important gene associated with Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia is TKCR (Torticollis, Keloids, Cryptorchidism And Renal Dysplasia). Related phenotypes are cryptorchidism and melanocytic nevus

More information from OMIM: 314300

Related Diseases for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Diseases related to Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 torticollis 10.3
2 cryptorchidism, unilateral or bilateral 10.3
3 renal dysplasia 10.3
4 primary hyperparathyroidism 10.0
5 hyperparathyroidism 10.0

Graphical network of the top 20 diseases related to Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia:



Diseases related to Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Symptoms & Phenotypes for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Human phenotypes related to Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 HP:0000028
2 melanocytic nevus 31 HP:0000995
3 facial asymmetry 31 HP:0000324
4 varicose veins 31 HP:0002619
5 keloids 31 HP:0010562
6 torticollis 31 HP:0000473
7 oligospermia 31 HP:0000798
8 renal dysplasia 31 HP:0000110
9 pyelonephritis 31 HP:0012330
10 unilateral renal atrophy 31 HP:0008717

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G U:
cryptorchidism
oligospermia
renal dysplasia
unilateral renal atrophy
chronic pyelonephritis

Vascular:
varicose veins

Neuro:
torticollis

Facies:
facial asymmetry

Skin:
keloids
pigmented nevi

Clinical features from OMIM®:

314300 (Updated 20-May-2021)

UMLS symptoms related to Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia:


torticollis

Drugs & Therapeutics for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Search Clinical Trials , NIH Clinical Center for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Genetic Tests for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Anatomical Context for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Publications for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Articles related to Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia:

# Title Authors PMID Year
1
Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus. 61 57
6132873 1982
2
Goeminne syndrome (OMIM 314300): another male patient 30 years later. 57
12725596 2003
3
Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation. 57
6951798 1982
4
A new probably X-linked inherited syndrome: congenital muscular torticollis, multiple keloids cryptorchidism and renal dysplasia. 57
4387470 1968

Variations for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Expression for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Search GEO for disease gene expression data for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia.

Pathways for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

GO Terms for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

Sources for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

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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