MCID: ANP018
MIFTS: 27

Anophthalmia Plus Syndrome malady

Genetic diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for Anophthalmia Plus Syndrome

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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Anophthalmia Plus Syndrome, Aliases & Descriptions:

Name: Anophthalmia Plus Syndrome 41 47 60
Fryns Microphthalmia Syndrome 41 47
Leichtman Wood Rohn Syndrome 41 60
Anophthalmia, Cleft Lip/palate, Facial Anomalies, and Cns Anomalies and Hypothalamic Disorder 41
 
Microphthalmia with Facial Clefting 41
Fryns Anophthalmia Syndrome 41
Anophthalmia 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
anophthalmia plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal


External Ids:

Orphanet47 1104
MESH via Orphanet34 C537767
ICD10 via Orphanet26 Q02
UMLS via Orphanet61 C1833339

Summaries for Anophthalmia Plus Syndrome

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NIH Rare Diseases:41 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 aplasia/hypoplasia affecting the eye, cleft palate and hypertelorism. Affiliated tissues include eye and adrenal gland.

Related Diseases for Anophthalmia Plus Syndrome

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Diseases in the Anophthalmia Plus Syndrome family:

Pax6-Related Anophthalmia

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

(show top 50)    (show all 204)
idRelated DiseaseScoreTop Affiliating Genes
1oculocerebrocutaneous syndrome10.8
2sox2 anophthalmia syndrome10.4
3coloboma10.3
4microphthalmia, syndromic 310.3
5esophagitis10.3
6anophthalmos with limb anomalies10.3
7microphthalmia10.3
8anophthalmia/microphthalmia10.3
9microphthalmia, syndromic 910.2
10cleft lip10.2
11esophageal atresia10.2
12microphthalmia, syndromic 110.2
13anophthalmia megalocornea cardiopathy skeletal anomalies10.2
14microphthalmia with limb anomalies10.1
15polydactyly10.1
16mental retardation anophthalmia craniosynostosis10.1
17mental retardation10.1
18manitoba oculotrichoanal syndrome10.1
19microphthalmia, syndromic 610.1
20hemifacial microsomia10.1
21focal dermal hypoplasia10.1
22pituitary hypoplasia10.1
23hypogonadotropism10.1
24hypogonadism10.1
25anophthalmia cleft lip palate hypothalamic disorder10.1
26anophthalmia cleft palate micrognathia10.1
27anophthalmia esophageal atresia cryptorchidism10.1
28anophthalmia microcephaly hypogonadism10.1
29anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies10.1
30growth hormone deficiency10.1
31anophthalmia-esophageal atresia-genital abnormalities syndrome10.1
32pax6-related anophthalmia10.1
33rax-related anophthalmia/microphthalmia10.1
34microphthalmia, syndromic 510.0
35cryptorchidism10.0
36diaphragmatic eventration10.0
37encephalocele10.0
38microtia10.0
39schwartz-jampel syndrome, type 19.8
40aphakia, congenital primary9.8
41basal cell nevus syndrome9.8
42hypoparathyroidism-retardation-dysmorphism syndrome9.8
43peters anomaly9.8
44mowat-wilson syndrome9.8
45microphthalmia, syndromic 129.8
46fraser syndrome9.8
47treacher collins syndrome 19.8
48branchiooculofacial syndrome9.8
49yunis-varon syndrome9.8
50microphthalmia, syndromic 89.8

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



Diseases related to anophthalmia plus syndrome

Symptoms for Anophthalmia Plus Syndrome

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Symptoms:

 47 (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 15)
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

Drugs & Therapeutics for Anophthalmia Plus Syndrome

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Drug clinical trials:

Search ClinicalTrials for Anophthalmia Plus Syndrome

Search NIH Clinical Center for Anophthalmia Plus Syndrome

Genetic Tests for Anophthalmia Plus Syndrome

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Anatomical Context for Anophthalmia Plus Syndrome

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MalaCards organs/tissues related to Anophthalmia Plus Syndrome:

31
Eye, Adrenal gland

Animal Models for Anophthalmia Plus Syndrome or affiliated genes

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Publications for Anophthalmia Plus Syndrome

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Articles related to Anophthalmia Plus Syndrome:

idTitleAuthorsYear
1
Fryns anophthalmia-plus syndrome: two rare cases. (25804017)
2014
2
Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature. (24341146)
2013
3
Fryns anophthalmia-plus syndrome in an 18-week-old fetus. (21675878)
2012
4
Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. (18564500)
2008
5
Anophthalmia-plus syndrome: a clinical report and review of the literature. (17152069)
2007

Variations for Anophthalmia Plus Syndrome

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Expression for genes affiliated with Anophthalmia Plus Syndrome

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

Pathways for genes affiliated with Anophthalmia Plus Syndrome

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Compounds for genes affiliated with Anophthalmia Plus Syndrome

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GO Terms for genes affiliated with Anophthalmia Plus Syndrome

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Products for genes affiliated with Anophthalmia Plus Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Anophthalmia Plus Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet