MCID: CTT001
MIFTS: 15

Catatrichy

Categories: Rare diseases

Aliases & Classifications for Catatrichy

MalaCards integrated aliases for Catatrichy:

Name: Catatrichy 56 52 71
Forelock 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
catatrichy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 116850
MedGen 41 C1861799
SNOMED-CT via HPO 68 263681008
UMLS 71 C1861799

Summaries for Catatrichy

MalaCards based summary : Catatrichy, is also known as forelock. Affiliated tissues include skin, eye 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:

31
# Description HPO Frequency HPO Source Accession
1 abnormal hair morphology 31 HP:0001595

Symptoms via clinical synopsis from OMIM:

56
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:

40
Skin, Eye, Bone, Heart

Publications for Catatrichy

Articles related to Catatrichy:

(show top 50) (show all 109)
# Title Authors PMID Year
1
KIT-related piebaldism in a Chinese girl. 61
32220041 2020
2
Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I. 61
32281454 2020
3
Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan. 61
31998473 2020
4
The forelock sign: A new arthroscopic finding in partial subscapularis tears. 61
31650913 2019
5
Approach to Hair Transplantation in Advanced Grade Baldness by Follicular Unit Extraction: A Retrospective Analysis of 820 Cases. 61
32001965 2019
6
Waardenburg syndrome with dry eyes: A rare association. 61
31572658 2019
7
[Ophthalmologic manifestations of Waardenburg syndrome]. 61
32015313 2019
8
Case of Waardenburg Shah syndrome in a family with review of literature. 61
30559775 2018
9
A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan. 61
30345200 2018
10
In-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response. 61
29631773 2018
11
Horse hair follicles: A novel dermal stem cell source for equine regenerative medicine. 61
28865236 2018
12
Association of Piebaldism with Café-au-Lait Macules. 61
28705289 2017
13
Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies. 61
27659091 2016
14
Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family. 61
27031059 2016
15
A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family. 61
26279250 2015
16
Waardenburg Syndrome: A Case Study of Two Patients. 61
26405672 2015
17
Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome. 61
26114849 2015
18
Case report: waardenburg syndrome. 61
25735036 2015
19
A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling. 61
25960657 2015
20
Anisometropic amblyopia in a case of type 2 Waardenburg syndrome. 61
24351514 2013
21
Poliosis circumscripta: overview and underlying causes. 61
23850259 2013
22
Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging. 61
23868078 2013
23
Management of advanced hair loss patterns. 61
24017980 2013
24
A novel mutation of the KIT gene in a Chinese family with piebaldism. 61
23786947 2013
25
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). 61
23016555 2013
26
Piebaldism. 61
22670867 2013
27
Waardenburg syndrome--a case report. 61
23121842 2013
28
Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects. 61
22320238 2013
29
Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene. 61
22963253 2012
30
Cochlear implantation outcomes in children with Waardenburg syndrome. 61
22159916 2012
31
[Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports]. 61
23471332 2012
32
Piebaldism: A brief report and review of the literature. 61
23130293 2012
33
Glycogen storage disease 1a with piebaldism. 61
22484741 2012
34
Waardenburg Syndrome type 1: A case report. 61
22136859 2011
35
Piebaldism in a 2-year-old girl. 61
21382296 2011
36
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/blind in Kaduna-Nigeria. 61
21970256 2011
37
Audiometric findings in Waardenburg's syndrome amongst the institutionalised deaf/ blind in Kaduna-Nigeria. 61
21526624 2010
38
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. 61
20664692 2010
39
Familial case of piebaldism with regression of white forelock. 61
18355360 2008
40
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. 61
18039926 2008
41
Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability. 61
18241065 2008
42
Association of Shah-Waardenburgh syndrome: a review of 6 cases. 61
18405726 2008
43
[Multifactor analysis of postoperative mechanical ventilation supporting time in infants with congenital heart diseases]. 61
17478947 2007
44
Cochlear implantations in children with Waardenburg syndrome: an electrophysiological and psychophysical review. 61
18792389 2006
45
Waardenburg syndrome Type II. 61
18603964 2006
46
Waardenburg syndrome. 61
16880590 2006
47
Cochlear implants in Waardenburg syndrome. 61
16826074 2006
48
Piebaldism. 61
16403390 2005
49
Waardenburg syndrome type 2 in an African patient. 61
16394488 2005
50
Cochlear implantation in children with Waardenburg syndrome. 61
16156914 2005

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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