GAPO
MCID: GPS001
MIFTS: 31

Gapo Syndrome (GAPO) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Gapo Syndrome

Aliases & Descriptions for Gapo Syndrome:

Name: Gapo Syndrome 54 50 24 56 66
Growth Retardation, Alopecia, Pseudoanodontia, and Optic Atrophy 24 66
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 50 69
Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome 56
Gapo 66

Characteristics:

Orphanet epidemiological data:

56
gapo syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adult;

HPO:

32
gapo syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 230740
Orphanet 56 ORPHA2067
UMLS via Orphanet 70 C0406723
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0406723

Summaries for Gapo Syndrome

OMIM : 54 The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure... (230740) more...

MalaCards based summary : Gapo Syndrome, also known as growth retardation, alopecia, pseudoanodontia, and optic atrophy, is related to tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities and alopecia, and has symptoms including hypertelorism, low-set ears and frontal bossing. An important gene associated with Gapo Syndrome is ANTXR1 (Anthrax Toxin Receptor 1). Affiliated tissues include skin, bone and eye.

UniProtKB/Swiss-Prot : 66 GAPO syndrome: A disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients.

Related Diseases for Gapo Syndrome

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

(show all 17)
id Related Disease Score Top Affiliating Genes
1 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 11.4
2 alopecia 9.8
3 craniosynostosis 9.8
4 cerebritis 9.7
5 retinitis 9.7
6 pyoderma 9.7
7 intracranial hypertension 9.7
8 interstitial keratitis 9.7
9 cardiomyopathy 9.7
10 keratitis 9.7
11 vascular malformation 9.7
12 pulmonary hypertension 9.7
13 dilated cardiomyopathy 9.7
14 ankyloglossia 9.7
15 thrombosis 9.7
16 anodontia 9.7
17 hypothyroidism 9.7

Graphical network of the top 20 diseases related to Gapo Syndrome:



Diseases related to Gapo Syndrome

Symptoms & Phenotypes for Gapo Syndrome

Symptoms by clinical synopsis from OMIM:

230740

Clinical features from OMIM:

230740

Human phenotypes related to Gapo Syndrome:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 low-set ears 56 32 Very frequent (99-80%) HP:0000369
3 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
4 nystagmus 56 32 Occasional (29-5%) HP:0000639
5 mandibular prognathia 56 32 Frequent (79-30%) HP:0000303
6 hearing impairment 56 32 Occasional (29-5%) HP:0000365
7 increased intracranial pressure 56 32 Occasional (29-5%) HP:0002516
8 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
9 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
10 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
11 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
12 visual impairment 56 32 Frequent (79-30%) HP:0000505
13 optic atrophy 56 32 Occasional (29-5%) HP:0000648
14 short stature 56 32 Very frequent (99-80%) HP:0004322
15 long philtrum 56 32 Very frequent (99-80%) HP:0000343
16 micrognathia 56 32 Very frequent (99-80%) HP:0000347
17 abnormality of the metaphyses 56 32 Frequent (79-30%) HP:0000944
18 thick nasal alae 56 32 Very frequent (99-80%) HP:0009928
19 delayed eruption of teeth 56 32 Very frequent (99-80%) HP:0000684
20 joint hyperflexibility 56 32 Very frequent (99-80%) HP:0005692
21 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
22 everted lower lip vermilion 56 32 Very frequent (99-80%) HP:0000232
23 growth delay 56 32 Occasional (29-5%) HP:0001510
24 hypopigmented skin patches 56 32 Occasional (29-5%) HP:0001053
25 palpebral edema 56 32 Very frequent (99-80%) HP:0100540
26 hypogonadism 56 32 Occasional (29-5%) HP:0000135
27 broad forehead 56 32 Very frequent (99-80%) HP:0000337
28 myopia 56 32 Occasional (29-5%) HP:0000545
29 glaucoma 56 32 Frequent (79-30%) HP:0000501
30 abnormality of the cerebral vasculature 56 32 Frequent (79-30%) HP:0100659
31 prematurely aged appearance 56 32 Very frequent (99-80%) HP:0007495
32 choanal atresia 56 32 Occasional (29-5%) HP:0000453
33 nephrolithiasis 56 32 Occasional (29-5%) HP:0000787
34 alopecia 56 32 Very frequent (99-80%) HP:0001596
35 high forehead 56 32 Very frequent (99-80%) HP:0000348
36 abnormality of pelvic girdle bone morphology 56 32 Frequent (79-30%) HP:0002644
37 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
38 abnormality of the clavicle 56 32 Frequent (79-30%) HP:0000889
39 hyperextensible skin 56 32 Very frequent (99-80%) HP:0000974
40 keratoconus 56 32 Frequent (79-30%) HP:0000563
41 abnormality of the palate 56 32 Frequent (79-30%) HP:0000174
42 underdeveloped supraorbital ridges 56 32 Very frequent (99-80%) HP:0009891
43 atherosclerosis 56 32 Occasional (29-5%) HP:0002621
44 dysmenorrhea 56 32 Occasional (29-5%) HP:0100607
45 decreased skull ossification 56 32 Occasional (29-5%) HP:0004331
46 asymmetry of the thorax 56 32 Occasional (29-5%) HP:0001555
47 sparse eyelashes 56 32 Very frequent (99-80%) HP:0000653
48 skin tags 56 32 Frequent (79-30%) HP:0010609
49 hemangioma 56 32 Occasional (29-5%) HP:0001028
50 early balding 56 32 Very frequent (99-80%) HP:0002234

Drugs & Therapeutics for Gapo Syndrome

Search Clinical Trials , NIH Clinical Center for Gapo Syndrome

Genetic Tests for Gapo Syndrome

Genetic tests related to Gapo Syndrome:

id Genetic test Affiliating Genes
1 Gapo Syndrome 24 ANTXR1

Anatomical Context for Gapo Syndrome

MalaCards organs/tissues related to Gapo Syndrome:

39
Skin, Bone, Eye, Breast

Publications for Gapo Syndrome

Articles related to Gapo Syndrome:

(show all 35)
id Title Authors Year
1
New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report. ( 27587992 )
2016
2
GAPO syndrome: a new syndromic cause of premature ovarian insufficiency. ( 27426988 )
2016
3
GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension. ( 24473423 )
2014
4
Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome. ( 24664815 )
2014
5
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. ( 25045128 )
2014
6
GAPO syndrome with deafness: new feature or incidental finding? ( 24326960 )
2013
7
Mutations in ANTXR1 cause GAPO syndrome. ( 23602711 )
2013
8
GAPO syndrome associated with pyoderma vegetans: an unreported co-existence. ( 24032282 )
2013
9
Anesthetic management of a case of GAPO syndrome for craniosynostosis surgery. ( 24250016 )
2013
10
GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer. ( 23494824 )
2013
11
GAPO syndrome associated with vestibular dysfunction and hearing loss. ( 23794220 )
2013
12
Anesthetic management of a patient with GAPO syndrome for glaucoma surgery. ( 21718384 )
2011
13
GAPO syndrome associated with craniofacial vascular malformation. ( 20034076 )
2010
14
GAPO syndrome: a report of two siblings and a review of literature. ( 20537066 )
2010
15
GAPO syndrome: a case associated with bilateral interstitial keratitis and hypothyroidism. ( 20032780 )
2010
16
GAPO syndrome associated with dilated cardiomyopathy: an unreported association. ( 19206158 )
2009
17
GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism. ( 19291762 )
2009
18
GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature. ( 18470892 )
2008
19
Dental findings in GAPO syndrome: case report. ( 17262136 )
2006
20
Ophthalmic aspects of GAPO syndrome: case report and review. ( 16272061 )
2005
21
GAPO syndrome: first patients with partially empty sella. ( 12099399 )
2002
22
Ophthalmic findings in GAPO syndrome. ( 10197743 )
1999
23
GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis. ( 10731088 )
1999
24
GAPO syndrome (Radiographic clues to early diagnosis). ( 9180938 )
1997
25
Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma. ( 9230846 )
1997
26
GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva. ( 9298746 )
1997
27
GAPO syndrome in TA1rkiye. ( 9240754 )
1996
28
GAPO syndrome: a new case. ( 7573163 )
1995
29
GAPO syndrome: report on the first case in Japan. ( 8533828 )
1995
30
GAPO syndrome in a child without dermal hyaline deposit. ( 7521121 )
1994
31
GAPO syndrome in three relatives in a Turkish kindred. ( 8135278 )
1993
32
GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older. ( 2248288 )
1990
33
The GAPO syndrome. ( 3565482 )
1987
34
GAPO syndrome: report of three affected brothers. ( 6507472 )
1984
35
Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature. ( 6507471 )
1984

Variations for Gapo Syndrome

ClinVar genetic disease variations for Gapo Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ANTXR1 NM_032208.2(ANTXR1): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs397514700 GRCh37 Chromosome 2, 69302734: 69302734
2 ANTXR1 NM_032208.2(ANTXR1): c.262C> T (p.Arg88Ter) single nucleotide variant Pathogenic rs397514701 GRCh37 Chromosome 2, 69271911: 69271911
3 ANTXR1 NM_032208.2(ANTXR1): c.1435-12A> G single nucleotide variant Pathogenic rs879255533 GRCh38 Chromosome 2, 69245213: 69245213
4 ANTXR1 NM_032208.2(ANTXR1): c.411A> G (p.Gln137=) single nucleotide variant Likely pathogenic rs869312896 GRCh37 Chromosome 2, 69298918: 69298918
5 ANTXR1 NM_032208.2(ANTXR1): c.1150G> A (p.Gly384Ser) single nucleotide variant Likely pathogenic rs869312897 GRCh37 Chromosome 2, 69408978: 69408978
6 ANTXR1 NM_032208.2(ANTXR1): c.1221dupT (p.Ala408Cysfs) duplication Likely pathogenic rs869312895 GRCh37 Chromosome 2, 69409660: 69409660

Expression for Gapo Syndrome

Search GEO for disease gene expression data for Gapo Syndrome.

Pathways for Gapo Syndrome

GO Terms for Gapo Syndrome

Sources for Gapo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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