TKC
MCID: TRT015
MIFTS: 22

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

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 58 74
Goeminne Tkcr Syndrome 58 13
Goeminne Syndrome 58 54
Tkcr Syndrome 58 54
Tkc 58 54
Torticollis-Keloids-Cryptorchidism-Renal Dysplasia Syndrome 60
Torticollis Keloids Cryptorchidism Renal Dysplasia 54
Tkcr 58

Characteristics:

Orphanet epidemiological data:

60
torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked with incomplete dominance (xq28)


Classifications:



External Ids:

OMIM 58 314300
MESH via Orphanet 46 C536970
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1839129
Orphanet 60 ORPHA3341
MedGen 43 C1839129
UMLS 74 C1839129

Summaries for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3341Disease definitionTorticollis-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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia, also known as goeminne tkcr syndrome, is related to perrault syndrome 1 and torticollis, and has symptoms including torticollis An important gene associated with Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia is TKCR (Torticollis, Keloids, Cryptorchidism And Renal Dysplasia). Affiliated tissues include skin, and related phenotypes are cryptorchidism and melanocytic nevus

Description 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 perrault syndrome 1 11.1
2 torticollis 10.3
3 keloids 10.3
4 renal dysplasia 10.3

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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 33 HP:0000028
2 melanocytic nevus 33 HP:0000995
3 varicose veins 33 HP:0002619
4 keloids 33 HP:0010562
5 facial asymmetry 33 HP:0000324
6 oligospermia 33 HP:0000798
7 torticollis 33 HP:0000473
8 renal dysplasia 33 HP:0000110
9 pyelonephritis 33 HP:0012330
10 unilateral renal atrophy 33 HP:0008717

Symptoms via clinical synopsis from OMIM:

58
G U:
cryptorchidism
oligospermia
renal dysplasia
chronic pyelonephritis
unilateral renal atrophy

Skin:
keloids
pigmented nevi

Neuro:
torticollis

Vascular:
varicose veins

Facies:
facial asymmetry

Clinical features from OMIM:

314300

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

MalaCards organs/tissues related to Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia:

42
Skin

Publications for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

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

# Title Authors 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. ( 6132873 )
1982

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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