PTOS1
MCID: PTS018
MIFTS: 19

Ptosis, Hereditary Congenital 1 (PTOS1)

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ptosis, Hereditary Congenital 1

MalaCards integrated aliases for Ptosis, Hereditary Congenital 1:

Name: Ptosis, Hereditary Congenital 1 57 29 6 39 70
Ptosis, Hereditary Congenital, 1 57 13
Ptos1 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
ptosis, hereditary congenital 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 178300
MedGen 41 C1867438
SNOMED-CT via HPO 68 263681008 268163008 61989004
UMLS 70 C1867438

Summaries for Ptosis, Hereditary Congenital 1

OMIM® : 57 Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis. See PTOS2 (300245) for description of an X-linked form of congenital bilateral isolated ptosis. (178300) (Updated 05-Apr-2021)

MalaCards based summary : Ptosis, Hereditary Congenital 1, also known as ptosis, hereditary congenital, 1, is related to ptosis and congenital ptosis. An important gene associated with Ptosis, Hereditary Congenital 1 is ZFHX4 (Zinc Finger Homeobox 4). Related phenotype is congenital ptosis.

Related Diseases for Ptosis, Hereditary Congenital 1

Diseases in the Ptosis family:

Ptosis, Hereditary Congenital 1 Ptosis, Hereditary Congenital 2
Congenital Ptosis Rare Disorder with Ptosis

Diseases related to Ptosis, Hereditary Congenital 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ptosis 31.0 ZFHX4 PTOS1
2 congenital ptosis 30.6 ZFHX4 PTOS1

Symptoms & Phenotypes for Ptosis, Hereditary Congenital 1

Human phenotypes related to Ptosis, Hereditary Congenital 1:

31
# Description HPO Frequency HPO Source Accession
1 congenital ptosis 31 HP:0007970

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
congenital ptosis

Clinical features from OMIM®:

178300 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ptosis, Hereditary Congenital 1

Search Clinical Trials , NIH Clinical Center for Ptosis, Hereditary Congenital 1

Genetic Tests for Ptosis, Hereditary Congenital 1

Genetic tests related to Ptosis, Hereditary Congenital 1:

# Genetic test Affiliating Genes
1 Ptosis, Hereditary Congenital 1 29 ZFHX4

Anatomical Context for Ptosis, Hereditary Congenital 1

Publications for Ptosis, Hereditary Congenital 1

Articles related to Ptosis, Hereditary Congenital 1:

# Title Authors PMID Year
1
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family. 57 61
17987257 2008
2
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. 57
11935336 2002
3
A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. 57
9150162 1997
4
Congenital ptosis. A new pedigree and classification. 57
5057864 1972
5
The genetic approach to hereditary congenital ptosis. 57
13662254 1959

Variations for Ptosis, Hereditary Congenital 1

ClinVar genetic disease variations for Ptosis, Hereditary Congenital 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZFHX4 NM_024721.5(ZFHX4):c.6141del (p.Pro2048fs) Deletion Pathogenic 1033644 GRCh37: 8:77765298-77765298
GRCh38: 8:76853062-76853062
2 ZFHX4 NM_024721.5(ZFHX4):c.6144_6145del (p.Pro2049fs) Deletion Pathogenic 1033645 GRCh37: 8:77765300-77765301
GRCh38: 8:76853064-76853065

Expression for Ptosis, Hereditary Congenital 1

Search GEO for disease gene expression data for Ptosis, Hereditary Congenital 1.

Pathways for Ptosis, Hereditary Congenital 1

GO Terms for Ptosis, Hereditary Congenital 1

Sources for Ptosis, Hereditary Congenital 1

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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