SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY

General Information (adopted from Orphanet):

Synonyms, Signs: SOPH
Number of Symptoms 60
OrphanetNr:
OMIM Id: 614800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000470) Short neck 345 / 7739
2
(HPO:0000341) Narrow forehead 96 / 7739
3
(HPO:0000233) Thin vermilion border 124 / 7739
4
(HPO:0000324) Facial asymmetry 57 / 7739
5
(HPO:0000574) Thick eyebrow 96 / 7739
6
(HPO:0002057) Prominent glabella 8 / 7739
7
(HPO:0000276) Long face 109 / 7739
8
(HPO:0000343) Long philtrum 262 / 7739
9
(HPO:0000316) Hypertelorism rare [HPO:skoehler] 644 / 7739
10
(HPO:0000248) Brachycephaly 222 / 7739
11
(HPO:0000520) Proptosis 192 / 7739
12
(HPO:0000286) Epicanthus 371 / 7739
13
(HPO:0008499) High-grade hypermetropia 14 / 7739
14
(HPO:0200068) Nonprogressive visual loss 1 / 7739
15
(HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
16
(HPO:0000545) Myopia rare [HPO:skoehler] 286 / 7739
17
(HPO:0000540) Hypermetropia rare [HPO:skoehler] 99 / 7739
18
(HPO:0000648) Optic atrophy 238 / 7739
19
(HPO:0007663) Reduced visual acuity 100 / 7739
20
(HPO:0001770) Toe syndactyly 149 / 7739
21
(HPO:0002983) Micromelia 130 / 7739
22
(HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
23
(HPO:0009700) Finger symphalangism 55 / 7739
24
(HPO:0001216) Delayed ossification of carpal bones 30 / 7739
25
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
26
(HPO:0001159) Syndactyly rare [HPO:skoehler] 140 / 7739
27
(HPO:0001852) Sandal gap 63 / 7739
28
(HPO:0002750) Delayed skeletal maturation rare [HPO:skoehler] 250 / 7739
29
(HPO:0007598) Bilateral single transverse palmar creases 13 / 7739
30
(HPO:0000954) Single transverse palmar crease rare [HPO:skoehler] 162 / 7739
31
(HPO:0001156) Brachydactyly syndrome 180 / 7739
32
(HPO:0004322) Short stature 1232 / 7739
33
(HPO:0008897) Postnatal growth retardation 113 / 7739
34
(HPO:0000973) Cutis laxa 43 / 7739
35
(HPO:0003764) Nevus 17 / 7739
36
(HPO:0000995) Melanocytic nevus 63 / 7739
37
(HPO:0002213) Fine hair 77 / 7739
38
(HPO:0007481) Hyperpigmented nevi 6 / 7739
39
(HPO:0001252) Muscular hypotonia 990 / 7739
40
(OMIM) High arch 1 / 7739
41
(OMIM) Hypoplasia of parietal tubers 1 / 7739
42
(OMIM) Hypoplastic cheekbones 1 / 7739
43
(OMIM) Wide feet 3 / 7739
44
(OMIM) Hypolobulation of granulocyte nuclei (Pelger-Huet anomaly) 1 / 7739
45
(OMIM) Exophthalmos, bilateral 1 / 7739
46
(OMIM) Small orbits 2 / 7739
47
(OMIM) Hypoplasia of frontal tubers 1 / 7739
48
(OMIM) Normal intellectual function 1 / 7739
49
(MedDRA:10063146) Uterine hypoplasia 3 / 7739
50
(OMIM) Hypermobility of small joints 3 / 7739
51
(MedDRA:10072883) Brachydactyly 153 / 7739
52
(OMIM) Wide hallux 1 / 7739
53
(OMIM) Small facial features 1 / 7739
54
(OMIM) Decreased turgor of skin 1 / 7739
55
(OMIM) High voice with harsh timber 1 / 7739
56
(OMIM) Straight nose 1 / 7739
57
(OMIM) Achromatopsia, complete or incomplete 1 / 7739
58
(OMIM) Senile-appearing face 1 / 7739
59
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
60
(OMIM) Optic nerve atrophy, bilateral 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual ...
Clinical Description OMIM In the linguistically and geographically isolated Yakut population of northeastern Siberia, previously studied for the presence of autosomal dominant and recessive as well as X-linked recessive genetic diseases (Nogovitsina et al., 1999; Tarskaya et al., 2003; Tarskaia et ...
Molecular genetics OMIM In 33 Yakut patients from 30 families with short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome) mapping to chromosome 2p24.3, Maksimova et al. (2010) analyzed 2 candidate genes and identified homozygosity for a missense mutation in ...