Aliases & Classifications for Widow's Peak

MalaCards integrated aliases for Widow's Peak:

Name: Widow's Peak 57 29
Widow's Peak Syndrome 57 70
Widow's Peak, Ptosis, and Skeletal Anomalies 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
widow's peak:
Inheritance autosomal dominant inheritance

widow's peak syndrome:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Widow's Peak

MalaCards based summary : Widow's Peak, also known as widow's peak syndrome, is related to craniofrontonasal syndrome and hypertelorism. An important gene associated with Widow's Peak is ALX1 (ALX Homeobox 1). Related phenotypes are ptosis and kyphosis

More information from OMIM: 194000 314570

Related Diseases for Widow's Peak

Graphical network of the top 20 diseases related to Widow's Peak:



Diseases related to Widow's Peak

Symptoms & Phenotypes for Widow's Peak

Human phenotypes related to Widow's Peak:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 kyphosis 31 HP:0002808
3 inguinal hernia 31 HP:0000023
4 hypertelorism 31 HP:0000316
5 short stature 31 HP:0004322
6 cryptorchidism 31 HP:0000028
7 low-set ears 31 HP:0000369
8 arthralgia/arthritis 31 HP:0005059
9 narrow iliac wings 31 HP:0002868
10 shawl scrotum 31 HP:0000049
11 posteriorly rotated ears 31 HP:0000358
12 abnormality of the hand 31 HP:0001155
13 mild short stature 31 HP:0003502
14 widow's peak 31 HP:0000349
15 high iliac wings 31 HP:0008808
16 hip osteoarthritis 31 HP:0008843
17 arthralgia of the hip 31 HP:0003365
18 recurrent patellar dislocation 31 HP:0005001

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism

Skin Nails Hair Hair:
pointed frontal hairline

Clinical features from OMIM®:

194000 314570 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Widow's Peak:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 ALX1 ALX3 ALX4 SPECC1L
2 embryo MP:0005380 9.46 ALX1 ALX3 ALX4 SPECC1L
3 mortality/aging MP:0010768 9.35 ALX1 ALX3 ALX4 SPECC1L ZSWIM6
4 nervous system MP:0003631 9.02 ALX1 ALX3 ALX4 SPECC1L ZSWIM6

Drugs & Therapeutics for Widow's Peak

Search Clinical Trials , NIH Clinical Center for Widow's Peak

Genetic Tests for Widow's Peak

Genetic tests related to Widow's Peak:

# Genetic test Affiliating Genes
1 Widow's Peak 29

Anatomical Context for Widow's Peak

Publications for Widow's Peak

Articles related to Widow's Peak:

(show all 34)
# Title Authors PMID Year
1
Widow's peak scalp-hair anomaly and its relation to ocular hypertelorism. 61 57
4128017 1973
2
Frontonasal dysplasia: A case report. 61
31914496 2019
3
Management of median and paramedian craniofacial clefts. 61
30691993 2019
4
Three-Dimensional Computed Tomographic Characterization of Normal Anatomic Morphology and Variations of the Distal Tibiofibular Syndesmosis. 61
30197255 2018
5
Determining the frequency of morphological characteristics in a sample of Brazilian children. 61
28756062 2017
6
A STUDY OF SOME MORPHOGENETIC TRAITS AMONG THE ESAN ETHNIC GROUP OF NIGERIA. 61
26866091 2014
7
Frontonasal and fibrous dysplasia in a patient with unilateral cleft lip and palate. 61
23851889 2013
8
Study of frontal hairline patterns in Spanish Caucasian women. 61
23582301 2013
9
The transplanted hairline: leg room for improvement. 61
22351827 2012
10
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 61
20734337 2010
11
A new mutation in MC1R explains a coat color phenotype in 2 "old" breeds: Saluki and Afghan hound. 61
20525767 2010
12
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. 61
19938075 2009
13
Naturally occurring female hairline patterns. 61
19397668 2009
14
Frontonasal dysplasia: a family presenting autosomal dominant inheritance pattern. 61
19400543 2009
15
Donnai-Barrow Syndrome 61
20301732 2008
16
The Maize Viviparous8 locus, encoding a putative ALTERED MERISTEM PROGRAM1-like peptidase, regulates abscisic acid accumulation and coordinates embryo and endosperm development. 61
18203869 2008
17
Atrioventricular block and wiry hair in Teebi hypertelorism syndrome. 61
16906548 2006
18
A structure-function study of MID1 mutations associated with a mild Opitz phenotype. 61
16378742 2006
19
New dental findings in the median cleft facial syndrome. 61
15966650 2005
20
X-Linked Opitz G/BBB Syndrome 61
20301502 2004
21
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. 61
11311001 2001
22
Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene. 61
11241498 2001
23
Frontonasal dysostosis in two successive generations. 61
10564879 1999
24
Prenatal sonographic diagnosis of Aarskog syndrome. 61
10511304 1999
25
[Neurocutaneous syndrome with hair alterations]. 61
9273169 1997
26
Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family. 61
8826434 1996
27
Teebi hypertelorism syndrome: further observations. 61
8849013 1995
28
Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11. 61
7762593 1995
29
Aarskog syndrome: report of a family with review and discussion of nosology. 61
8322809 1993
30
Apparently previously undescribed X-linked dominant syndrome with facial and skeletal anomalies. 61
2801771 1989
31
Widow's peak anomaly with alopecia. 61
3628586 1987
32
Brief clinical report: duplication of distal 17q: report of an observation. 61
6711615 1984
33
Brief clinical report: an infant with duplication of 17q21 lead to 17qter. 61
7246600 1981
34
The Aarskog syndrome. 61
669698 1978

Variations for Widow's Peak

Expression for Widow's Peak

Search GEO for disease gene expression data for Widow's Peak.

Pathways for Widow's Peak

GO Terms for Widow's Peak

Biological processes related to Widow's Peak according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.5 ALX4 ALX3 ALX1
2 pattern specification process GO:0007389 9.26 ALX4 ALX3
3 embryonic forelimb morphogenesis GO:0035115 9.16 ALX4 ALX3
4 embryonic hindlimb morphogenesis GO:0035116 8.96 ALX4 ALX3
5 embryonic skeletal system morphogenesis GO:0048704 8.8 ALX4 ALX3 ALX1

Molecular functions related to Widow's Peak according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.13 ALX4 ALX3 ALX1
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.8 ALX4 ALX3 ALX1

Sources for Widow's Peak

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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