MCID: PTS018
MIFTS: 15

Ptosis, Hereditary Congenital 1

Categories: Eye 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 40 73
Ptosis, Hereditary Congenital, 1 57 13
Ptos1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ptosis, hereditary congenital 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

OMIM 57 178300
MedGen 42 C1867438
SNOMED-CT via HPO 69 263681008 268163008 61989004
UMLS 73 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)

MalaCards based summary : Ptosis, Hereditary Congenital 1, also known as ptosis, hereditary congenital, 1, is related to 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

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 30.1 PTOS1 ZFHX4

Symptoms & Phenotypes for Ptosis, Hereditary Congenital 1

Symptoms via clinical synopsis from OMIM:

57
Eyes:
congenital ptosis


Clinical features from OMIM:

178300

Human phenotypes related to Ptosis, Hereditary Congenital 1:

32
# Description HPO Frequency HPO Source Accession
1 congenital ptosis 32 HP:0007970

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

Variations for Ptosis, Hereditary Congenital 1

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 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
Content
Loading form....