GAPO syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GROWTH RETARDATION, ALOPECIA, PSEUDOANODONTIA, AND OPTIC ATROPHY
Growth delay - alopecia - pseudoanodontia - optic atrophy
Number of Symptoms 77
OrphanetNr: 2067
OMIM Id: 230740
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 27 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive syndromic optic atrophy
 -Rare eye disease
 -Rare genetic disease
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005576) Tubulointerstitial fibrosis 32 / 7739
2
 (HPO:0000869) Secondary amenorrhea Occasional [Orphanet] 42 / 7739
3
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
4
 (HPO:0000260) Wide anterior fontanel 55 / 7739
5
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
6
 (HPO:0009891) Underdeveloped supraorbital ridges Very frequent [Orphanet] 36 / 7739
7
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
8
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
9
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
10
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
11
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
12
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
13
 (HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
14
 (HPO:0000164) Abnormality of the teeth 291 / 7739
15
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
16
 (HPO:0009928) Thick nasal alae Very frequent [Orphanet] 21 / 7739
17
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
18
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
19
 (HPO:0000347) Micrognathia 426 / 7739
20
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
21
 (HPO:0100540) Palpebral edema Very frequent [Orphanet] 31 / 7739
22
 (HPO:0004331) Decreased skull ossification Occasional [Orphanet] 31 / 7739
23
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
24
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
25
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
26
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
27
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
28
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
29
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
30
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
31
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
32
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
33
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
34
 (HPO:0100692) Increased corneal curvature Frequent [Orphanet] 13 / 7739
35
 (HPO:0000563) Keratoconus 25 / 7739
36
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
37
 (HPO:0000648) Optic atrophy 238 / 7739
38
 (HPO:0000411) Protruding ear 140 / 7739
39
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
40
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
41
 (HPO:0002516) Increased intracranial pressure Occasional [Orphanet] 47 / 7739
42
 (HPO:0003187) Breast hypoplasia 17 / 7739
43
 (HPO:0002557) Hypoplastic nipples 33 / 7739
44
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
45
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
46
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
47
 (HPO:0001555) Asymmetry of the thorax Occasional [Orphanet] 15 / 7739
48
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
49
 (HPO:0000765) Abnormality of the thorax Frequent [Orphanet] 64 / 7739
50
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
51
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
52
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
53
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
54
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
55
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
56
 (HPO:0001510) Growth delay 295 / 7739
57
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
58
 (HPO:0001043) Prominent scalp veins 3 / 7739
59
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
60
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
61
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
62
 (HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 80 / 7739
63
 (HPO:0001006) Hypotrichosis 219 / 7739
64
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
65
 (HPO:0010609) Skin tags Frequent [Orphanet] 12 / 7739
66
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
67
 (HPO:0100659) Abnormality of the cerebral vasculature Frequent [Orphanet] 25 / 7739
68
 (HPO:0002621) Atherosclerosis Occasional [Orphanet] 33 / 7739
69
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
70
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
71
 (OMIM) Widespread interstitial fibrosis (visceral organs) 1 / 7739
72
 (OMIM) Amorphous hyaline substance 1 / 7739
73
 (OMIM) Scalp hair present at birth, lost in early childhood and never regrows 1 / 7739
74
 (OMIM) Severe hypotrichosis 2 / 7739
75
 (OMIM) Pseudoanodontia 2 / 7739
76
 (OMIM) Thick, full lips 1 / 7739
77
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Tipton and Gorlin (1984) reported a case and reviewed cases in the literature, including a follow-up on the first reported case. Because of the striking phenotype, diagnosis as early as 6 months should be possible in most cases. ...
Molecular genetics OMIM In a Czech family with GAPO syndrome, previously reported by Baxova et al. (1997), Stranecky et al. (2013) performed exome sequencing and identified only 1 variant compatible with a recessive disorder, a homozygous nonsense mutation in the ANTXR1 ...