MCID: ANP018
MIFTS: 25

Anophthalmia Plus Syndrome malady

Fetal diseases category

Summaries for Anophthalmia Plus Syndrome

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Anophthalmia Plus Syndrome, also known as fryns microphthalmia syndrome, is related to oculocerebrocutaneous syndrome and matthew-wood syndrome, and has symptoms including spina bifida, clinodactyly of fingers 1,2,3,4/overlapping fingers and sacrococcyx agenesis. Affiliated tissues include eye.

Description from OMIM:46 600776

Aliases & Classifications for Anophthalmia Plus Syndrome

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 26ICD10 via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

anophthalmia plus syndrome 42 48 46
fryns microphthalmia syndrome 42 48
anophthalmia, cleft lip/palate, facial anomalies, and cns anomalies and hypothalamic disorder 42
microphthalmia with facial clefting 42
leichtman wood rohn syndrome 42
fryns anophthalmia syndrome 42
anophthalmia 44


External Ids:

ICD10 via Orphanet26 Q02
UMLS via Orphanet61 C1833339
OMIM46 600776
MESH via Orphanet35 C537767

Related Diseases for Anophthalmia Plus Syndrome

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17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 186)
idRelated DiseaseScoreTop Affiliating Genes
1oculocerebrocutaneous syndrome10.6
2matthew-wood syndrome10.3
3anophthalmos with limb anomalies10.3
4sox2 anophthalmia syndrome10.3
5fryns syndrome10.3
6coloboma10.2
7cleft palate10.2
8esophagitis10.2
9anophthalmia/microphthalmia10.2
10cleft lip10.2
11esophageal atresia10.2
12polydactyly10.1
13anophthalmia megalocornea cardiopathy skeletal anomalies10.1
14microphthalmia, isolated 210.1
15pituitary hypoplasia10.0
16diaphragmatic eventration10.0
17hypogonadotropism10.0
18hypogonadism10.0
19microphthalmia syndromic 310.0
20mental retardation anophthalmia craniosynostosis10.0
21cryptorchidism9.9
22focal dermal hypoplasia9.9
23hydrolethalus syndrome9.9
24manitoba oculotrichoanal syndrome9.9
25oculofaciocardiodental syndrome9.9
26anophthalmia cleft lip palate hypothalamic disorder9.9
27anophthalmia cleft palate micrognathia9.9
28microphthalmia syndromic 69.9
29anophthalmia esophageal atresia cryptorchidism9.9
30anophthalmia microcephaly hypogonadism9.9
31anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies9.9
32cockayne syndrome type ii9.9
33anophthalmia-esophageal atresia-genital abnormalities syndrome9.9
34pax6-related anophthalmia9.9
35rax-related anophthalmia/microphthalmia9.9
36thrombocytopenia-absent radius syndrome9.8
37smith-lemli-opitz syndrome9.8
38goldenhar syndrome9.8
39rubinstein-taybi syndrome9.8
40incontinentia pigmenti achromians9.8
41cartilage-hair hypoplasia9.8
42pelizaeus-merzbacher disease9.8
43congenital aphakia9.8
44aniridia9.8
45syndactyly9.8
46digeorge syndrome9.8
47panhypopituitarism9.8
48refsum disease9.8
49patau syndrome9.8
50edwards syndrome9.8

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



Diseases related to anophthalmia plus syndrome

Clinical Features for Anophthalmia Plus Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

600776

Clinical synopsis from OMIM:

600776

Symptoms:

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

Drugs & Therapeutics for Anophthalmia Plus Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Anophthalmia Plus Syndrome

Genetic Tests for Anophthalmia Plus Syndrome

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Anatomical Context for Anophthalmia Plus Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Anophthalmia Plus Syndrome:

32
Eye

Animal Models for Anophthalmia Plus Syndrome or affiliated genes

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Publications for Anophthalmia Plus Syndrome

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Genetic Variations for Anophthalmia Plus Syndrome

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Expression for genes affiliated with Anophthalmia Plus Syndrome

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Sources:
15Gene Expression Omnibus DataSets
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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

Sources for Anophthalmia Plus Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet