MCID: ANP018
MIFTS: 31

Anophthalmia Plus Syndrome malady

Genetic diseases, Rare diseases, Fetal diseases categories
Download this MalaCard

Summaries for Anophthalmia Plus Syndrome

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 Anophthalmia plus syndrome (aps) is a very rare syndrome that involves malformations in multiple organs of the body. the most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect, midline abdominal wall defects, clinodactyly, eye colobomas and congenital glaucoma. it has been suggested that aps is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified. last updated: 11/17/2011

MalaCards based summary: Anophthalmia Plus Syndrome, also known as fryns microphthalmia syndrome, is related to oculocerebrocutaneous syndrome and sox2 anophthalmia syndrome, and has symptoms including anophthalmos/anophthalmia/microphthalmos/microphthalmia, autosomal recessive inheritance and hypertelorism. Affiliated tissues include eye and adrenal gland.

Description from OMIM:46 600776

Aliases & Classifications for Anophthalmia Plus Syndrome

About this section
Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Anophthalmia Plus Syndrome, Aliases & Descriptions:

Name: Anophthalmia Plus Syndrome 42 48 46 62
Fryns Microphthalmia Syndrome 42 48 62
Microphthalmia with Facial Clefting 42 62
Leichtman Wood Rohn Syndrome 42 62
 
Fryns Anophthalmia Syndrome 42 62
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 42
Anophthalmia 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases


Characteristics (Orphanet epidemiological data):

48
anophthalmia plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 600776
MESH via Orphanet35 C537767
ICD10 via Orphanet26 Q02
UMLS via Orphanet63 C1833339

Related Diseases for Anophthalmia Plus Syndrome

About this section

Diseases in the Anophthalmia Plus Syndrome family:

Pax6-Related Anophthalmia

Diseases related to Anophthalmia Plus Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 212)
idRelated DiseaseScoreTop Affiliating Genes
1oculocerebrocutaneous syndrome10.7
2sox2 anophthalmia syndrome10.5
3matthew-wood syndrome10.3
4coloboma10.3
5anophthalmos with limb anomalies10.3
6esophagitis10.3
7microphthalmia10.3
8anophthalmia/microphthalmia10.3
9cleft lip10.2
10esophageal atresia10.2
11polydactyly10.1
12anophthalmia megalocornea cardiopathy skeletal anomalies10.1
13microphthalmia syndromic 310.1
14mental retardation10.1
15pituitary hypoplasia10.1
16hypogonadotropism10.1
17hypogonadism10.1
18growth hormone deficiency10.1
19mental retardation anophthalmia craniosynostosis10.1
20focal dermal hypoplasia10.0
21diaphragmatic eventration10.0
22incontinentia pigmenti achromians10.0
23cryptorchidism10.0
24manitoba oculotrichoanal syndrome10.0
25anophthalmia cleft lip palate hypothalamic disorder10.0
26anophthalmia cleft palate micrognathia10.0
27anophthalmia esophageal atresia cryptorchidism10.0
28anophthalmia microcephaly hypogonadism10.0
29anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies10.0
30cockayne syndrome type ii10.0
31encephalocele10.0
32microphthalmia syndromic 610.0
33oculofaciocardiodental syndrome10.0
34septo-optic dysplasia10.0
35anophthalmia-esophageal atresia-genital abnormalities syndrome10.0
36pax6-related anophthalmia10.0
37rax-related anophthalmia/microphthalmia10.0
38microtia10.0
39anophthalmia - hypothalamo-pituitary insufficiency10.0
40anophthalmia - heart and pulmonary anomalies - intellectual disability10.0
41anencephaly9.8
42cataract9.8
43ectodermal dysplasia9.8
44hydrocephalus9.8
45pelizaeus-merzbacher disease9.8
46goldenhar syndrome9.8
47nevoid basal cell carcinoma syndrome9.8
48cartilage-hair hypoplasia9.8
49obstructive hydrocephalus9.8
50smith-lemli-opitz syndrome9.8

Graphical network of the top 20 diseases related to Anophthalmia Plus Syndrome:



Diseases related to anophthalmia plus syndrome

Symptoms for Anophthalmia Plus Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

600776

Clinical features from OMIM:

600776

Symptoms:

48 (show all 17)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • autosomal recessive inheritance
  • hypertelorism
  • facial cleft
  • anomalies of nose and olfaction
  • choanal atresia
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • coloboma of iris
  • blepharophimosis/short palpebral fissures
  • coloboma of the eyelid
  • small/hypoplastic/adherent/absent ear lobe
  • vertebral segmentation anomaly/hemivertebrae
  • sacrococcyx agenesis
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • spina bifida

HPO human phenotypes related to Anophthalmia Plus Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
2 cleft palate typical (50%) HP:0000175
3 hypertelorism typical (50%) HP:0000316
4 low-set, posteriorly rotated ears typical (50%) HP:0000368
5 choanal atresia typical (50%) HP:0000453
6 facial cleft typical (50%) HP:0002006
7 non-midline cleft lip typical (50%) HP:0100335
8 blepharophimosis occasional (7.5%) HP:0000581
9 iris coloboma occasional (7.5%) HP:0000612
10 cleft eyelid occasional (7.5%) HP:0000625
11 spina bifida occasional (7.5%) HP:0002414
12 vertebral segmentation defect occasional (7.5%) HP:0003422
13 deviation of finger occasional (7.5%) HP:0004097
14 aplasia/hypoplasia of the sacrum occasional (7.5%) HP:0008517
15 aplasia/hypoplasia of the earlobes occasional (7.5%) HP:0009906
16 autosomal recessive inheritance HP:0000007
17 abnormality of the genitourinary system HP:0000119
18 macrotia HP:0000400
19 anophthalmia HP:0000528
20 abnormality of the vertebral column HP:0000925
21 facial cleft HP:0002006
22 bilateral cleft lip and palate HP:0002744

Drugs & Therapeutics for Anophthalmia Plus Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Anophthalmia Plus Syndrome

Search NIH Clinical Center for Anophthalmia Plus Syndrome

Genetic Tests for Anophthalmia Plus Syndrome

About this section

Anatomical Context for Anophthalmia Plus Syndrome

About this section

MalaCards organs/tissues related to Anophthalmia Plus Syndrome:

32
Eye, Adrenal gland

Animal Models for Anophthalmia Plus Syndrome or affiliated genes

About this section

Publications for Anophthalmia Plus Syndrome

About this section

Articles related to Anophthalmia Plus Syndrome:

idTitleAuthorsYear
1
Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature. (24341146)
2013
2
Fryns anophthalmia-plus syndrome in an 18-week-old fetus. (21675878)
2012
3
Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. (18564500)
2008
4
Anophthalmia-plus syndrome: a clinical report and review of the literature. (17152069)
2007

Variations for Anophthalmia Plus Syndrome

About this section

Expression for genes affiliated with Anophthalmia Plus Syndrome

About this section

Search GEO for disease gene expression data for Anophthalmia Plus Syndrome.

Pathways for genes affiliated with Anophthalmia Plus Syndrome

About this section

Compounds for genes affiliated with Anophthalmia Plus Syndrome

About this section

GO Terms for genes affiliated with Anophthalmia Plus Syndrome

About this section

Products for genes affiliated with Anophthalmia Plus Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Anophthalmia Plus Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet