MCID: ANP018
MIFTS: 22

Anophthalmia Plus Syndrome malady

Fetal category

Summaries for Anophthalmia Plus Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 sox2 anophthalmia syndrome, and has symptoms including hypertelorism, low set ears/posteriorly rotated ears and clinodactyly of fingers 1,2,3,4/overlapping fingers.

Description from OMIM:47 600776

Aliases & Classifications for Anophthalmia Plus Syndrome

Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 26ICD10 via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
anophthalmia plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

anophthalmia plus syndrome 43 49 47
fryns microphthalmia syndrome 43 49
anophthalmia, cleft lip/palate, facial anomalies, and cns anomalies and hypothalamic disorder 43
microphthalmia with facial clefting 43
leichtman wood rohn syndrome 43
fryns anophthalmia syndrome 43
anophthalmia 45


External Ids:

ICD10 via Orphanet26 Q02
UMLS via Orphanet62 C1833339
OMIM47 600776
MESH via Orphanet36 C537767

Related Diseases for Anophthalmia Plus Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Anophthalmia Plus Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 197)
idRelated DiseaseScoreTop Affiliating Genes
1oculocerebrocutaneous syndrome10.7
2sox2 anophthalmia syndrome10.4
3matthew-wood syndrome10.3
4fryns syndrome10.3
5coloboma10.2
6esophageal atresia10.2
7isolated microphthalmia10.1
8polydactyly10.1
9anophthalmia megalocornea cardiopathy skeletal anomalies10.1
10growth hormone deficiency10.1
11microphthalmia, isolated 210.1
12pituitary hypoplasia10.0
13diaphragmatic eventration10.0
14microphthalmia syndromic 310.0
15oculofaciocardiodental syndrome10.0
16anophthalmia cleft palate micrognathia10.0
17anophthalmia esophageal atresia cryptorchidism10.0
18mental retardation anophthalmia craniosynostosis10.0
19microphthalmia with limb anomalies10.0
20cryptorchidism9.9
21focal dermal hypoplasia9.9
22waardenburg's syndrome9.9
23hydrolethalus syndrome9.9
24manitoba oculotrichoanal syndrome9.9
25anophthalmia cleft lip palate hypothalamic disorder9.9
26microphthalmia syndromic 69.9
27anophthalmia microcephaly hypogonadism9.9
28anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies9.9
29anophthalmos with limb anomalies9.9
30encephalocele9.9
31cockayne syndrome type ii9.9
32fraser syndrome9.9
33septo-optic dysplasia9.9
34anophthalmia-esophageal atresia-genital abnormalities syndrome9.9
35pax6-related anophthalmia9.9
36rax-related anophthalmia/microphthalmia9.9
37microtia9.9
38optic nerve hypoplasia9.9
39thrombocytopenia-absent radius syndrome9.8
40smith-lemli-opitz syndrome9.8
41goldenhar syndrome9.8
42rubinstein-taybi syndrome9.8
43incontinentia pigmenti achromians9.8
44cartilage-hair hypoplasia9.8
45pelizaeus-merzbacher disease9.8
46congenital aphakia9.8
47aniridia9.8
48syndactyly9.8
49digeorge syndrome9.8
50panhypopituitarism9.8

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



Diseases related to anophthalmia plus syndrome

Clinical Features for Anophthalmia Plus Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

600776

Clinical synopsis from OMIM:

600776

Symptoms:

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

Drugs & Therapeutics for Anophthalmia Plus Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Anophthalmia Plus Syndrome

Animal Models for Anophthalmia Plus Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Anophthalmia Plus Syndrome

Genetic Variations for Anophthalmia Plus Syndrome

Expression for genes affiliated with Anophthalmia Plus Syndrome

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

Compounds for genes affiliated with Anophthalmia Plus Syndrome

GO Terms for genes affiliated with Anophthalmia Plus Syndrome

Products for genes affiliated with Anophthalmia Plus Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anophthalmia Plus Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet