MCID: FRT006
MIFTS: 15

Fourth Cranial Nerve Palsy, Familial Congenital

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fourth Cranial Nerve Palsy, Familial Congenital

MalaCards integrated aliases for Fourth Cranial Nerve Palsy, Familial Congenital:

Name: Fourth Cranial Nerve Palsy, Familial Congenital 56 71
Familial Congenital Palsy of Trochlear Nerve 52 58 29
Superior Oblique Oculomotor Palsy, Familial Congenital 56 52
Trochlear Nerve Palsy, Familial Congenital 56 52
Strabismus from Superior Oblique Palsy 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
fourth cranial nerve palsy, familial congenital:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM 56 136480
ICD10 via Orphanet 33 H49.1
UMLS via Orphanet 72 C1850996
Orphanet 58 ORPHA91498
MedGen 41 C1850996
SNOMED-CT via HPO 68 20610004 263681008
UMLS 71 C1850996

Summaries for Fourth Cranial Nerve Palsy, Familial Congenital

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 91498 Definition Familial congenital palsy of trochlear nerve is a rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported. Visit the Orphanet disease page for more resources.

MalaCards based summary : Fourth Cranial Nerve Palsy, Familial Congenital, is also known as familial congenital palsy of trochlear nerve. Affiliated tissues include eye, and related phenotypes are fourth cranial nerve palsy and abnormal visual fixation

More information from OMIM: 136480

Related Diseases for Fourth Cranial Nerve Palsy, Familial Congenital

Diseases in the Fourth Cranial Nerve Palsy family:

Fourth Cranial Nerve Palsy, Familial Congenital

Symptoms & Phenotypes for Fourth Cranial Nerve Palsy, Familial Congenital

Human phenotypes related to Fourth Cranial Nerve Palsy, Familial Congenital:

31
# Description HPO Frequency HPO Source Accession
1 fourth cranial nerve palsy 31 HP:0007011
2 abnormal visual fixation 31 HP:0025404
3 impaired ocular adduction 31 HP:0000542
4 abnormality of binocular vision 31 HP:0011514
5 superior oblique muscle weakness 31 HP:0025592

Symptoms via clinical synopsis from OMIM:

56
Neuro:
fourth cranial nerve palsy
superior oblique palsy

Clinical features from OMIM:

136480

Drugs & Therapeutics for Fourth Cranial Nerve Palsy, Familial Congenital

Search Clinical Trials , NIH Clinical Center for Fourth Cranial Nerve Palsy, Familial Congenital

Genetic Tests for Fourth Cranial Nerve Palsy, Familial Congenital

Genetic tests related to Fourth Cranial Nerve Palsy, Familial Congenital:

# Genetic test Affiliating Genes
1 Familial Congenital Palsy of Trochlear Nerve 29

Anatomical Context for Fourth Cranial Nerve Palsy, Familial Congenital

MalaCards organs/tissues related to Fourth Cranial Nerve Palsy, Familial Congenital:

40
Eye

Publications for Fourth Cranial Nerve Palsy, Familial Congenital

Articles related to Fourth Cranial Nerve Palsy, Familial Congenital:

# Title Authors PMID Year
1
Familial congenital fourth cranial nerve palsy. 56
3985833 1985

Variations for Fourth Cranial Nerve Palsy, Familial Congenital

Expression for Fourth Cranial Nerve Palsy, Familial Congenital

Search GEO for disease gene expression data for Fourth Cranial Nerve Palsy, Familial Congenital.

Pathways for Fourth Cranial Nerve Palsy, Familial Congenital

GO Terms for Fourth Cranial Nerve Palsy, Familial Congenital

Sources for Fourth Cranial Nerve Palsy, Familial Congenital

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
Content
Loading form....