Aliases & Classifications for Widow's Peak

MalaCards integrated aliases for Widow's Peak:

Name: Widow's Peak 57 29
Widow's Peak Syndrome 57 73
Widow's Peak, Ptosis, and Skeletal Anomalies 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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 acromelic frontonasal dysostosis and basal encephalocele. An important gene associated with Widow's Peak is ALX1 (ALX Homeobox 1). Affiliated tissues include bone, and related phenotypes are hypertelorism and low-set ears

Wikipedia : 76 A widow''s peak is a V-shaped point in the hairline in the center of the forehead. Hair growth on the... more...

Description from OMIM: 194000 314570

Related Diseases for Widow's Peak

Diseases related to Widow's Peak via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acromelic frontonasal dysostosis 9.9 ALX3 ZSWIM6
2 basal encephalocele 9.8 ALX3 ALX4
3 hypertelorism 9.8 ALX1 ALX3
4 dysostosis 9.8 ALX4 ZSWIM6

Symptoms & Phenotypes for Widow's Peak

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Skin Nails Hair Hair:
pointed frontal hairline


Clinical features from OMIM:

194000 314570

Human phenotypes related to Widow's Peak:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 ptosis 32 HP:0000508
4 kyphosis 32 HP:0002808
5 inguinal hernia 32 HP:0000023
6 short stature 32 HP:0004322
7 cryptorchidism 32 HP:0000028
8 arthralgia/arthritis 32 HP:0005059
9 abnormality of the hand 32 HP:0001155
10 narrow iliac wings 32 HP:0002868
11 shawl scrotum 32 HP:0000049
12 recurrent patellar dislocation 32 HP:0005001
13 posteriorly rotated ears 32 HP:0000358
14 mild short stature 32 HP:0003502
15 widow's peak 32 HP:0000349
16 high iliac wings 32 HP:0008808
17 arthralgia of the hip 32 HP:0003365
18 hip osteoarthritis 32 HP:0008843
19 pointed frontal hairline 32 HP:0004544

MGI Mouse Phenotypes related to Widow's Peak:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.71 ALX1 ALX3 ALX4 ZSWIM6
2 growth/size/body region MP:0005378 9.56 ALX1 ALX3 ALX4 ZSWIM6
3 craniofacial MP:0005382 9.54 ALX1 ALX3 ALX4
4 digestive/alimentary MP:0005381 9.5 ALX1 ALX3 ALX4
5 limbs/digits/tail MP:0005371 9.33 ALX1 ALX3 ALX4
6 nervous system MP:0003631 9.26 ALX1 ALX3 ALX4 ZSWIM6
7 respiratory system MP:0005388 8.8 ALX1 ALX3 ALX4

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

MalaCards organs/tissues related to Widow's Peak:

41
Bone

Publications for Widow's Peak

Articles related to Widow's Peak:

# Title Authors Year
1
Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene. ( 11241498 )
2001
2
Widow's peak anomaly with alopecia. ( 3628586 )
1987
3
Widow's peak scalp-hair anomaly and its relation to ocular hypertelorism. ( 4128017 )
1973

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

Cellular components related to Widow's Peak according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.62 ALX1 ALX4

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.63 ALX1 ALX3 ALX4
2 multicellular organism development GO:0007275 9.58 ALX1 ALX3 ALX4
3 regulation of apoptotic process GO:0042981 9.43 ALX3 ALX4
4 anterior/posterior pattern specification GO:0009952 9.37 ALX1 ALX4
5 roof of mouth development GO:0060021 9.32 ALX1 ALX4
6 pattern specification process GO:0007389 9.26 ALX3 ALX4
7 embryonic forelimb morphogenesis GO:0035115 9.16 ALX3 ALX4
8 embryonic hindlimb morphogenesis GO:0035116 8.96 ALX3 ALX4
9 embryonic skeletal system morphogenesis GO:0048704 8.8 ALX1 ALX3 ALX4

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 ALX1 ALX3 ALX4
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.16 ALX1 ALX4
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.96 ALX1 ALX4
4 sequence-specific DNA binding GO:0043565 8.8 ALX1 ALX3 ALX4

Sources for Widow's Peak

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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