MCID: ANP018
MIFTS: 31

Anophthalmia Plus Syndrome malady

Genetic diseases, Rare diseases, Fetal diseases categories

Summaries for Anophthalmia Plus Syndrome

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 sacrococcyx agenesis, anomalies of nose and olfaction and facial cleft. Affiliated tissues include eye and adrenal gland.

Description from OMIM:48 600776

Aliases & Classifications for Anophthalmia Plus Syndrome

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Sources:
44NIH Rare Diseases, 46Novoseek, 50Orphanet, 48OMIM, 27ICD10 via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
anophthalmia plus syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

anophthalmia plus syndrome 44 50 48
fryns microphthalmia syndrome 44 50
anophthalmia, cleft lip/palate, facial anomalies, and cns anomalies and hypothalamic disorder 44
microphthalmia with facial clefting 44
leichtman wood rohn syndrome 44
fryns anophthalmia syndrome 44
anophthalmia 46


External Ids:

ICD10 via Orphanet27 Q02
UMLS via Orphanet64 C1833339
OMIM48 600776
MESH via Orphanet37 C537767

Related Diseases for Anophthalmia Plus Syndrome

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18GeneCards, 19GeneDecks
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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 211)
idRelated DiseaseScoreTop Affiliating Genes
1oculocerebrocutaneous syndrome10.7
2sox2 anophthalmia syndrome10.4
3matthew-wood syndrome10.3
4coloboma10.3
5anophthalmos with limb anomalies10.3
6esophagitis10.2
7microphthalmia10.2
8anophthalmia/microphthalmia10.2
9cleft lip10.2
10esophageal atresia10.2
11polydactyly10.1
12anophthalmia megalocornea cardiopathy skeletal anomalies10.1
13mental retardation10.1
14microphthalmia, isolated 210.1
15pituitary hypoplasia10.1
16hypogonadotropism10.1
17hypogonadism10.1
18growth hormone deficiency10.1
19mental retardation anophthalmia craniosynostosis10.1
20microphthalmia syndromic 310.1
21focal dermal hypoplasia10.0
22diaphragmatic eventration10.0
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
39encephaloceles10.0
40rubinstein-taybi syndrome9.8
41goldenhar syndrome9.8
42panhypopituitarism9.8
43charge syndrome9.8
44edwards syndrome9.8
45meningocele9.8
46oculocerebrorenal syndrome9.8
47dextrocardia9.8
48neuronitis9.8
49acrocallosal syndrome9.8
50patau 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

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

600776

Clinical features from OMIM:

600776

Symptoms:

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

Drugs & Therapeutics for Anophthalmia Plus Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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:
34MalaCards
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MalaCards organs/tissues related to Anophthalmia Plus Syndrome:

34
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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53PubMed
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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

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Expression for genes affiliated with Anophthalmia Plus Syndrome

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Sources:
16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet