MCID: CTT001
MIFTS: 15

Catatrichy

Categories: Rare diseases

Aliases & Classifications for Catatrichy

MalaCards integrated aliases for Catatrichy:

Name: Catatrichy 57 53 72
Forelock 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
catatrichy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 116850
MedGen 42 C1861799
UMLS 72 C1861799

Summaries for Catatrichy

MalaCards based summary : Catatrichy, is also known as forelock. Affiliated tissues include skin, heart and bone, and related phenotype is abnormal hair morphology.

More information from OMIM: 116850

Related Diseases for Catatrichy

Symptoms & Phenotypes for Catatrichy

Human phenotypes related to Catatrichy:

32
# Description HPO Frequency HPO Source Accession
1 abnormal hair morphology 32 HP:0001595

Symptoms via clinical synopsis from OMIM:

57
Hair:
fine wavy forelock

Clinical features from OMIM:

116850

Drugs & Therapeutics for Catatrichy

Search Clinical Trials , NIH Clinical Center for Catatrichy

Genetic Tests for Catatrichy

Anatomical Context for Catatrichy

MalaCards organs/tissues related to Catatrichy:

41
Skin, Heart, Bone

Publications for Catatrichy

Articles related to Catatrichy:

(show top 50) (show all 102)
# Title Authors PMID Year
1
Case of Waardenburg Shah syndrome in a family with review of literature. 38
30559775 2018
2
A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan. 38
30345200 2018
3
In-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response. 38
29631773 2018
4
Horse hair follicles: A novel dermal stem cell source for equine regenerative medicine. 38
28865236 2018
5
Association of Piebaldism with Café-au-Lait Macules. 38
28705289 2017
6
Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies. 38
27659091 2016
7
Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family. 38
27031059 2016
8
A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family. 38
26279250 2015
9
Waardenburg Syndrome: A Case Study of Two Patients. 38
26405672 2015
10
Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome. 38
26114849 2015
11
Case report: waardenburg syndrome. 38
25735036 2015
12
A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling. 38
25960657 2015
13
Anisometropic amblyopia in a case of type 2 Waardenburg syndrome. 38
24351514 2013
14
Poliosis circumscripta: overview and underlying causes. 38
23850259 2013
15
Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging. 38
23868078 2013
16
Management of advanced hair loss patterns. 38
24017980 2013
17
A novel mutation of the KIT gene in a Chinese family with piebaldism. 38
23786947 2013
18
Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). 38
23016555 2013
19
Piebaldism. 38
22670867 2013
20
Waardenburg syndrome--a case report. 38
23121842 2013
21
Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects. 38
22320238 2013
22
Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene. 38
22963253 2012
23
Cochlear implantation outcomes in children with Waardenburg syndrome. 38
22159916 2012
24
[Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports]. 38
23471332 2012
25
Piebaldism: A brief report and review of the literature. 38
23130293 2012
26
Glycogen storage disease 1a with piebaldism. 38
22484741 2012
27
Waardenburg Syndrome type 1: A case report. 38
22136859 2011
28
Piebaldism in a 2-year-old girl. 38
21382296 2011
29
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/blind in Kaduna-Nigeria. 38
21970256 2011
30
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. 38
21526624 2010
31
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. 38
20664692 2010
32
Familial case of piebaldism with regression of white forelock. 38
18355360 2008
33
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. 38
18039926 2008
34
Association of Shah-Waardenburgh syndrome: a review of 6 cases. 38
18405726 2008
35
Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability. 38
18241065 2008
36
[Multifactor analysis of postoperative mechanical ventilation supporting time in infants with congenital heart diseases]. 38
17478947 2007
37
Cochlear implantations in children with Waardenburg syndrome: an electrophysiological and psychophysical review. 38
18792389 2006
38
Waardenburg syndrome Type II. 38
18603964 2006
39
Waardenburg syndrome. 38
16880590 2006
40
Cochlear implants in Waardenburg syndrome. 38
16826074 2006
41
Piebaldism. 38
16403390 2005
42
Waardenburg syndrome type 2 in an African patient. 38
16394488 2005
43
Cochlear implantation in children with Waardenburg syndrome. 38
16156914 2005
44
Deletion of the SLUG (SNAI2) gene results in human piebaldism. 38
12955764 2003
45
Hair transplantation for men with advanced degrees of hair loss. 38
12496614 2003
46
Shah Waardenberg syndrome. 38
12061683 2002
47
Association of piebaldism and neurofibromatosis type 1 in a girl. 38
11841634 2001
48
Waardenburg Syndrome Type I 38
20301703 2001
49
Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome. 38
11152153 2001
50
Genetics and molecular biology of deafness. Update. 38
11449793 2000

Variations for Catatrichy

Expression for Catatrichy

Search GEO for disease gene expression data for Catatrichy.

Pathways for Catatrichy

GO Terms for Catatrichy

Sources for Catatrichy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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