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 57 73
Goeminne Tkcr Syndrome 57 13
Goeminne Syndrome 57 53
Tkcr Syndrome 57 53
Tkc 57 53
Torticollis-Keloids-Cryptorchidism-Renal Dysplasia Syndrome 59
Torticollis Keloids Cryptorchidism Renal Dysplasia 53
Tkcr 57

Characteristics:

Orphanet epidemiological data:

59
torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked with incomplete dominance (xq28)


Classifications:



External Ids:

OMIM 57 314300
Orphanet 59 ORPHA3341
MESH via Orphanet 45 C536970
UMLS via Orphanet 74 C1839129
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1839129
UMLS 73 C1839129

Summaries for Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia

NIH Rare Diseases : 53 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 melanocytic nevus 32 HP:0000995
3 varicose veins 32 HP:0002619
4 keloids 32 HP:0010562
5 facial asymmetry 32 HP:0000324
6 oligospermia 32 HP:0000798
7 torticollis 32 HP:0000473
8 renal dysplasia 32 HP:0000110
9 pyelonephritis 32 HP:0012330
10 unilateral renal atrophy 32 HP:0008717

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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