MCID: GPS001
MIFTS: 36

Gapo Syndrome

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

Aliases & Classifications for Gapo Syndrome

MalaCards integrated aliases for Gapo Syndrome:

Name: Gapo Syndrome 53 72 49 55 71
Growth Retardation, Alopecia, Pseudoanodontia, and Optic Atrophy 53 71
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 49 69
Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome 55
Gapo 71

Characteristics:

Orphanet epidemiological data:

55
gapo syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adult;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
gapo syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gapo Syndrome

NIH Rare Diseases : 49 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 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 bone, skin and endothelial.

OMIM : 53 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)

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

Wikipedia : 72 GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has... more...

Related Diseases for Gapo Syndrome

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:

53
Head And Neck Eyes:
photophobia
nystagmus
optic atrophy
strabismus
glaucoma
more
Skeletal Spine:
scoliosis
increased bone density of the vertebral body end plates

Head And Neck Nose:
depressed nasal bridge

Head And Neck Mouth:
micrognathia
high arched palate
thick, full lips

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

Chest Breasts:
breast hypoplasia
nipple hypoplasia
bell-shaped chest

Skeletal:
delayed bone age

Neurologic Central Nervous System:
mental retardation (in some patients)
epilepsy (in some patients)
eeg abnormalities (in some patients)
delayed motor development (in some patients)
enlarged ventricles (in some patients)

Skeletal Limbs:
hyperextensible joints
enlargement of the proximal metaphyses of the humerus
enlargement of the distal metaphyses of the antebrachial bones
enlargement of the long bones, which are shortened
varus arching of the femurs
more
Cardiovascular Heart:
ecg abnormalities

Chest RibsSternum Clavicles And Scapulae:
enlargement of the costal arches
enlargement of the proximal third of the clavicle

Skeletal Pelvis:
short square iliac bones

Endocrine Features:
gonadal dysfunction

Head And Neck Face:
frontal bossing
micrognathia

Abdomen Liver:
hepatomegaly

Abdomen External Features:
umbilical hernia

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

Skin Nails Hair Nails:
nail dysplasia

Skin Nails Hair Skin:
prominent scalp veins
thick and redundant skin
epidermal inclusion cyst

Growth Other:
growth retardation

Head And Neck Ears:
protruding ears
folded ears

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

Respiratory Airways:
upper airway infection

Skeletal Skull:
sclerosis of the cranial base
lack of pneumatization of the sphenoidal sinuses
agenesis of the frontal sinuses
sclerosis of the mastoid
thinning of the diploe

Skin Nails Hair Skin Histology:
amorphous hyaline substance

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


Clinical features from OMIM:

230740

Human phenotypes related to Gapo Syndrome:

55 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
5 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
6 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
7 increased intracranial pressure 55 31 occasional (7.5%) Occasional (29-5%) HP:0002516
8 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
9 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
10 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
11 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
12 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
13 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
14 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
15 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
16 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
17 abnormality of the metaphysis 55 31 frequent (33%) Frequent (79-30%) HP:0000944
18 thick nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0009928
19 delayed eruption of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000684
20 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
21 abnormal form of the vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003312
22 everted lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000232
23 growth delay 55 31 Occasional (29-5%) HP:0001510
24 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
25 alopecia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001596
26 hypopigmented skin patches 55 31 occasional (7.5%) Occasional (29-5%) HP:0001053
27 palpebral edema 55 31 hallmark (90%) Very frequent (99-80%) HP:0100540
28 hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000135
29 broad forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000337
30 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
31 abnormality of the cerebral vasculature 55 31 frequent (33%) Frequent (79-30%) HP:0100659
32 prematurely aged appearance 55 31 hallmark (90%) Very frequent (99-80%) HP:0007495
33 choanal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000453
34 nephrolithiasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000787
35 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
36 abnormality of pelvic girdle bone morphology 55 31 frequent (33%) Frequent (79-30%) HP:0002644
37 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
38 abnormality of the palate 55 31 frequent (33%) Frequent (79-30%) HP:0000174
39 abnormality of the clavicle 55 31 frequent (33%) Frequent (79-30%) HP:0000889
40 hyperextensible skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000974
41 keratoconus 55 31 frequent (33%) Frequent (79-30%) HP:0000563
42 oligospermia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000798
43 underdeveloped supraorbital ridges 55 31 hallmark (90%) Very frequent (99-80%) HP:0009891
44 atherosclerosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002621
45 dysmenorrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0100607
46 decreased skull ossification 55 31 occasional (7.5%) Occasional (29-5%) HP:0004331
47 asymmetry of the thorax 55 31 occasional (7.5%) Occasional (29-5%) HP:0001555
48 sparse eyelashes 55 31 hallmark (90%) Very frequent (99-80%) HP:0000653
49 skin tags 55 31 frequent (33%) Frequent (79-30%) HP:0010609
50 amenorrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000141

Drugs & Therapeutics for Gapo Syndrome

Search Clinical Trials , NIH Clinical Center for Gapo Syndrome

Genetic Tests for Gapo Syndrome

Anatomical Context for Gapo Syndrome

MalaCards organs/tissues related to Gapo Syndrome:

38
Bone, Skin, Endothelial, Eye, Breast

Publications for Gapo Syndrome

Articles related to Gapo Syndrome:

(show all 37)
# Title Authors Year
1
GAPO syndrome: a rare genodermatosis presenting with unique features. ( 29377094 )
2018
2
GAPO Syndrome-A Rare Cause of Osteomyelitis of Jaws; Report of 4 Cases With a Brief Review of the Literature. ( 29304326 )
2017
3
GAPO syndrome: a new syndromic cause of premature ovarian insufficiency. ( 27426988 )
2016
4
New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report. ( 27587992 )
2016
5
Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome. ( 24664815 )
2014
6
GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension. ( 24473423 )
2014
7
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. ( 25045128 )
2014
8
Anesthetic management of a case of GAPO syndrome for craniosynostosis surgery. ( 24250016 )
2013
9
Mutations in ANTXR1 cause GAPO syndrome. ( 23602711 )
2013
10
GAPO syndrome associated with vestibular dysfunction and hearing loss. ( 23794220 )
2013
11
GAPO syndrome associated with pyoderma vegetans: an unreported co-existence. ( 24032282 )
2013
12
GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer. ( 23494824 )
2013
13
GAPO syndrome with deafness: new feature or incidental finding? ( 24326960 )
2013
14
Anesthetic management of a patient with GAPO syndrome for glaucoma surgery. ( 21718384 )
2011
15
GAPO syndrome: a case associated with bilateral interstitial keratitis and hypothyroidism. ( 20032780 )
2010
16
GAPO syndrome associated with craniofacial vascular malformation. ( 20034076 )
2010
17
GAPO syndrome: a report of two siblings and a review of literature. ( 20537066 )
2010
18
GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism. ( 19291762 )
2009
19
GAPO syndrome associated with dilated cardiomyopathy: an unreported association. ( 19206158 )
2009
20
GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature. ( 18470892 )
2008
21
Dental findings in GAPO syndrome: case report. ( 17262136 )
2006
22
Ophthalmic aspects of GAPO syndrome: case report and review. ( 16272061 )
2005
23
GAPO syndrome: first patients with partially empty sella. ( 12099399 )
2002
24
Ophthalmic findings in GAPO syndrome. ( 10197743 )
1999
25
GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis. ( 10731088 )
1999
26
GAPO syndrome (Radiographic clues to early diagnosis). ( 9180938 )
1997
27
Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma. ( 9230846 )
1997
28
GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva. ( 9298746 )
1997
29
GAPO syndrome in TA1rkiye. ( 9240754 )
1996
30
GAPO syndrome: report on the first case in Japan. ( 8533828 )
1995
31
GAPO syndrome: a new case. ( 7573163 )
1995
32
GAPO syndrome in a child without dermal hyaline deposit. ( 7521121 )
1994
33
GAPO syndrome in three relatives in a Turkish kindred. ( 8135278 )
1993
34
GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older. ( 2248288 )
1990
35
The GAPO syndrome. ( 3565482 )
1987
36
GAPO syndrome: report of three affected brothers. ( 6507472 )
1984
37
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
# 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
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33 ICD10 via Orphanet
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42 MESH via Orphanet
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54 OMIM via Orphanet
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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