MCID: AXN011
MIFTS: 18

Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities

Categories: Bone diseases, Ear diseases

Aliases & Classifications for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

MalaCards integrated aliases for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities:

Name: Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 56 29 71
Iris Dysplasia with Ocular Hypertelorism, Psychomotor Retardation, and Sensorineural Deafness 56
De Hauwere Syndrome 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

MalaCards based summary : Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities, also known as iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and hydrocephalus. Affiliated tissues include eye, and related phenotypes are intellectual disability and hypertelorism

More information from OMIM: 109120

Related Diseases for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

Diseases related to Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
2 hydrocephalus 10.2

Symptoms & Phenotypes for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

Human phenotypes related to Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hypertelorism 31 HP:0000316
3 muscular hypotonia 31 HP:0001252
4 macrocephaly 31 HP:0000256
5 hydrocephalus 31 HP:0000238
6 sensorineural hearing impairment 31 HP:0000407
7 short stature 31 HP:0004322
8 brachycephaly 31 HP:0000248
9 strabismus 31 HP:0000486
10 flat face 31 HP:0012368
11 hypoplasia of the maxilla 31 HP:0000327
12 ventriculomegaly 31 HP:0002119
13 hip dislocation 31 HP:0002827
14 proptosis 31 HP:0000520
15 malar flattening 31 HP:0000272
16 telecanthus 31 HP:0000506
17 abnormality of the vertebral column 31 HP:0000925
18 agenesis of corpus callosum 31 HP:0001274
19 coxa valga 31 HP:0002673
20 generalized hypotonia 31 HP:0001290
21 rieger anomaly 31 HP:0000558
22 large sella turcica 31 HP:0002690
23 abnormal auditory evoked potentials 31 HP:0006958
24 abnormally prominent line of schwalbe 31 HP:0007873
25 absent extraocular muscles 31 HP:0007886

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
telecanthus
rieger anomaly
abnormally prominent line of schwalbe
more
Growth Height:
short stature

Skeletal Pelvis:
hip dislocation
coxa valga

Neurologic Central Nervous System:
hypotonia
mental retardation
dilated cerebral ventricles
absent corpus callosum

Skeletal:
joint hyperlaxity

Head And Neck Head:
macrocephaly
brachycephaly

Head And Neck Face:
flat face

Skeletal Skull:
large sella turcica
maxillary hypoplasia

Head And Neck Ears:
sensorineural hearing loss

Skeletal Spine:
tall lumbar vertebrae

Clinical features from OMIM:

109120

Drugs & Therapeutics for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

Search Clinical Trials , NIH Clinical Center for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities

Genetic Tests for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

Genetic tests related to Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities:

# Genetic test Affiliating Genes
1 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 29

Anatomical Context for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

MalaCards organs/tissues related to Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities:

40
Eye

Publications for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

Articles related to Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities:

# Title Authors PMID Year
1
Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up. 56 61
17486624 2007
2
Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype. 56
1746603 1991
3
Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome. 56
4633364 1973
4
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. 61
23239455 2013
5
PITX2 and FOXC1 spectrum of mutations in ocular syndromes. 61
22569110 2012

Variations for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

Expression for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

Search GEO for disease gene expression data for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities.

Pathways for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

GO Terms for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

Sources for Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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