MCID: GPS001
MIFTS: 34

Gapo Syndrome

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

Aliases & Classifications for Gapo Syndrome

MalaCards integrated aliases for Gapo Syndrome:

Name: Gapo Syndrome 54 50 24 56 71
Growth Retardation, Alopecia, Pseudoanodontia, and Optic Atrophy 24 71
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 50 69
Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome 56
Gapo 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
gapo is acronym for growth retardation, alopecia, pseudoanodontia, optic atrophy


HPO:

32
gapo syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gapo Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2067disease definitiongapo syndrome is a multiple congenital anomalies (mca) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestationsepidemiologyapproximately 38 patients have been reported in literature since the first description in 1947.clinical descriptionpatients have a short stature due to post-natal growth retardation and a typical facies with high and bossing forehead, hypertelorism, puffy eyelids, midfacial hypoplasia, depressed nasal bridge, anteverted wide nostrils, thick everted lower lip, micrognathia, low-set ears and premature aging appearance mainly due to redundant hyperelastic skin with unusual wrinkles. scalp hair may be primarily present but disappears after the first months of life leading to complete or partial alopecia. eyebrows and/or eyelashes are sparse. primary and permanent teeth are formed but fail to erupt. ocular manifestations may include progressive optic atrophy, glaucoma, strabismus, megalocornea, myelinated retinal nerve fiber layer, bilateral keratoconus, nystagmus and ptosis. otorhinolaryngologic features are choanal atresia, deafness and presence of flaccid and pulsatile masses with an audible murmur in the mastoid area associated with dilated and tortuous scalp veins. patients have a mild intellectual deficit. some patients have also been reported with umbilical hernia, hyperextensible joints, osseous anomalies (congenital dislocation of hips or delayed bone age) and cutaneous manifestations (hemangioma or depigmented areas). other manifestations include intracranial hypertension in infancy, hypothyroidism, mitral valve dysfunction or cardiomyopathy, hepatomegaly, renal impairment and altered gonadal functions (irregular periods or amenorrhea, oligoastenospermia).etiologyhomozygous nonsense or splicing mutations in the antxr1 gene, encoding anthrax toxin receptor 1, also known as tumor endothelial marker 8 (tem8) cause gapo syndrome.diagnostic methodsdiagnosis mostly relies on physical examination. cerebral angiography and magnetic resonance angiography reveal prominent cortical veins, occluded or absent left transverse sinus, left sigmoid sinus, agenesis of left jugular vein, and enlarged veins underlying the palpable scalp masses. skin biopsy may reveal dermis anomalies including amorphous hyaline substance and recently reported pyoderma vegetans.antenatal diagnosisantenatal diagnosis is not possible as features are not detectable by fetal ultrasound.genetic counselinggapo syndrome appears to have an autosomal recessive transmission pattern.management and treatmentthere is no curative treatment. management mostly relies on ophthalmologic surveillance and symptomatic treatment of the multiple health problems.prognosisgapo patients are reported to have a reduced lifespan (until their 4th -6th decade of life).visit the orphanet disease page for more resources. last updated: 11/8/2013

MalaCards based summary : Gapo Syndrome, also known as growth retardation, alopecia, pseudoanodontia, and optic atrophy, is related to alopecia and craniosynostosis, and has symptoms including short stature, visual impairment and optic atrophy. An important gene associated with Gapo Syndrome is ANTXR1 (Anthrax Toxin Receptor 1). Affiliated tissues include skin, bone and endothelial.

UniProtKB/Swiss-Prot : 71 GAPO syndrome: A disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients.

OMIM : 54
The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) noted that optic atrophy is not a consistent feature of this disorder. (230740)

Related Diseases for Gapo Syndrome

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 alopecia 9.8
2 craniosynostosis 9.8
3 vascular malformation 9.7
4 keratitis 9.7
5 pulmonary hypertension 9.7
6 dilated cardiomyopathy 9.7
7 ankyloglossia 9.7
8 thrombosis 9.7
9 anodontia 9.7
10 hypothyroidism 9.7
11 cerebritis 9.7
12 retinitis 9.7
13 pyoderma 9.7
14 intracranial hypertension 9.7
15 interstitial keratitis 9.7
16 cardiomyopathy 9.7

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



Diseases related to Gapo Syndrome

Symptoms & Phenotypes for Gapo Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
delayed bone age

Abdomen- External Features:
umbilical hernia

Head And Neck- Face:
micrognathia
frontal bossing

Skin Nails & Hair- Hair:
alopecia
scalp hair present at birth, lost in early childhood and never regrows
severe hypotrichosis

Head And Neck- Head:
wide anterior fontanel
delayed closure of fontanel

Head And Neck- Mouth:
thick, full lips

Skin Nails & Hair- Skin:
prominent scalp veins

Laboratory- Abnormalities:
amorphous hyaline substance (skin biopsy and visceral organs)
widespread interstitial fibrosis (visceral organs)

Head And Neck- Eyes:
optic atrophy
nystagmus
glaucoma
keratoconus

Growth- Other:
growth retardation

Head And Neck- Nose:
depressed nasal bridge

Chest- Breasts:
breast hypoplasia
nipple hypoplasia

Head And Neck- Ears:
protruding ears

Head And Neck- Teeth:
pseudoanodontia (failure of tooth eruption)

Skin Nails & Hair- Skin Histology:
amorphous hyaline substance


Clinical features from OMIM:

230740

Human phenotypes related to Gapo Syndrome:

56 32 (show top 50) (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
3 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
4 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
6 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
7 nephrolithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000787
8 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
9 low-set ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000369
10 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
11 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
12 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
13 alopecia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001596
14 choanal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000453
15 glaucoma 56 32 frequent (33%) Frequent (79-30%) HP:0000501
16 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
17 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
18 broad forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000337
19 keratoconus 56 32 frequent (33%) Frequent (79-30%) HP:0000563
20 amenorrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000141
21 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
22 hemangioma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001028
23 hypogonadism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000135
24 atherosclerosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002621
25 midface retrusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0011800
26 thick nasal alae 56 32 hallmark (90%) Very frequent (99-80%) HP:0009928
27 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
28 sparse eyelashes 56 32 hallmark (90%) Very frequent (99-80%) HP:0000653
29 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
30 hypopigmented skin patches 56 32 occasional (7.5%) Occasional (29-5%) HP:0001053
31 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
32 hyperextensible skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000974
33 decreased skull ossification 56 32 occasional (7.5%) Occasional (29-5%) HP:0004331
34 skin tags 56 32 frequent (33%) Frequent (79-30%) HP:0010609
35 increased intracranial pressure 56 32 occasional (7.5%) Occasional (29-5%) HP:0002516
36 growth delay 56 32 Occasional (29-5%) HP:0001510
37 delayed eruption of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000684
38 everted lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000232
39 underdeveloped supraorbital ridges 56 32 hallmark (90%) Very frequent (99-80%) HP:0009891
40 palpebral edema 56 32 hallmark (90%) Very frequent (99-80%) HP:0100540
41 early balding 56 32 hallmark (90%) Very frequent (99-80%) HP:0002234
42 mandibular prognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000303
43 abnormal form of the vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0003312
44 abnormality of the cerebral vasculature 56 32 frequent (33%) Frequent (79-30%) HP:0100659
45 prematurely aged appearance 56 32 hallmark (90%) Very frequent (99-80%) HP:0007495
46 abnormality of pelvic girdle bone morphology 56 32 frequent (33%) Frequent (79-30%) HP:0002644
47 abnormality of the clavicle 56 32 frequent (33%) Frequent (79-30%) HP:0000889
48 abnormality of the palate 56 32 frequent (33%) Frequent (79-30%) HP:0000174
49 dysmenorrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0100607
50 asymmetry of the thorax 56 32 occasional (7.5%) Occasional (29-5%) HP:0001555

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, Endothelial, Breast, Eye

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
Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome. ( 24664815 )
2014
4
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. ( 25045128 )
2014
5
GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension. ( 24473423 )
2014
6
GAPO syndrome associated with pyoderma vegetans: an unreported co-existence. ( 24032282 )
2013
7
GAPO syndrome associated with vestibular dysfunction and hearing loss. ( 23794220 )
2013
8
Mutations in ANTXR1 cause GAPO syndrome. ( 23602711 )
2013
9
GAPO syndrome with deafness: new feature or incidental finding? ( 24326960 )
2013
10
Anesthetic management of a case of GAPO syndrome for craniosynostosis surgery. ( 24250016 )
2013
11
GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer. ( 23494824 )
2013
12
Anesthetic management of a patient with GAPO syndrome for glaucoma surgery. ( 21718384 )
2011
13
GAPO syndrome: a report of two siblings and a review of literature. ( 20537066 )
2010
14
GAPO syndrome associated with craniofacial vascular malformation. ( 20034076 )
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
GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva. ( 9298746 )
1997
26
Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma. ( 9230846 )
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.1221dupT (p.Ala408Cysfs) duplication Likely pathogenic rs869312895 GRCh38 Chromosome 2, 69182528: 69182528
5 ANTXR1 NM_032208.2(ANTXR1): c.411A> G (p.Gln137=) single nucleotide variant Likely pathogenic rs869312896 GRCh37 Chromosome 2, 69298918: 69298918
6 ANTXR1 NM_032208.2(ANTXR1): c.1150G> A (p.Gly384Ser) single nucleotide variant Likely pathogenic rs869312897 GRCh37 Chromosome 2, 69408978: 69408978

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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