COCKAYNE SYNDROME A

General Information (adopted from Orphanet):

Synonyms, Signs: CSA
Number of Symptoms 85
OrphanetNr:
OMIM Id: 216400
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000135) Hypogonadism 89 / 7739
3
(HPO:0000054) Micropenis 257 / 7739
4
(HPO:0000858) Menstrual irregularities 42 / 7739
5
(HPO:0000093) Proteinuria 169 / 7739
6
(HPO:0000083) Renal insufficiency 232 / 7739
7
(HPO:0002684) Thickened calvaria 32 / 7739
8
(HPO:0000685) Hypoplasia of teeth 12 / 7739
9
(HPO:0000292) Loss of facial adipose tissue 6 / 7739
10
(HPO:0000680) Delayed eruption of primary teeth 10 / 7739
11
(HPO:0000417) Slender nose 5 / 7739
12
(HPO:0000252) Microcephaly 832 / 7739
13
(HPO:0000303) Mandibular prognathia 179 / 7739
14
(HPO:0000670) Carious teeth 145 / 7739
15
(HPO:0000689) Dental malocclusion 114 / 7739
16
(HPO:0000639) Nystagmus 555 / 7739
17
(HPO:0007957) Corneal opacity 84 / 7739
18
(HPO:0000633) Decreased lacrimation 6 / 7739
19
(HPO:0000648) Optic atrophy 238 / 7739
20
(HPO:0000649) Abnormality of visual evoked potentials 34 / 7739
21
(HPO:0000580) Pigmentary retinopathy 49 / 7739
22
(HPO:0007814) Retinal pigment epithelial mottling 5 / 7739
23
(HPO:0007759) Opacification of the corneal stroma 77 / 7739
24
(HPO:0000518) Cataract 454 / 7739
25
(HPO:0000486) Strabismus 576 / 7739
26
(HPO:0000540) Hypermetropia 99 / 7739
27
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
28
(HPO:0000377) Abnormality of the pinna 111 / 7739
29
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
30
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
31
(HPO:0001250) Seizures 1245 / 7739
32
(HPO:0001337) Tremor 200 / 7739
33
(HPO:0009830) Peripheral neuropathy 206 / 7739
34
(HPO:0001288) Gait disturbance 318 / 7739
35
(HPO:0000726) Dementia 131 / 7739
36
(HPO:0003469) Peripheral dysmyelination 3 / 7739
37
(HPO:0001249) Intellectual disability 1089 / 7739
38
(HPO:0001271) Polyneuropathy 56 / 7739
39
(HPO:0001260) Dysarthria 329 / 7739
40
(HPO:0000762) Decreased nerve conduction velocity 36 / 7739
41
(HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
42
(HPO:0001251) Ataxia 413 / 7739
43
(HPO:0003278) Square pelvis bone 3 / 7739
44
(HPO:0001376) Limitation of joint mobility 27 / 7739
45
(HPO:0002808) Kyphosis 289 / 7739
46
(HPO:0008839) Hypoplastic pelvis 18 / 7739
47
(HPO:0002135) Basal ganglia calcification 37 / 7739
48
(HPO:0010234) Ivory epiphyses of the phalanges of the hand 3 / 7739
49
(HPO:0002866) Hypoplastic iliac wing 34 / 7739
50
(HPO:0001744) Splenomegaly 337 / 7739
51
(HPO:0002240) Hepatomegaly 467 / 7739
52
(HPO:0008850) Severe postnatal growth retardation 16 / 7739
53
(HPO:0001511) Intrauterine growth retardation 358 / 7739
54
(HPO:0001000) Abnormality of skin pigmentation 105 / 7739
55
(HPO:0008070) Sparse hair 94 / 7739
56
(HPO:0011359) Dry hair 16 / 7739
57
(HPO:0007495) Prematurely aged appearance 44 / 7739
58
(HPO:0005328) Progeroid facial appearance 13 / 7739
59
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
60
(HPO:0000987) Atypical scarring of skin 58 / 7739
61
(HPO:0000970) Anhidrosis 24 / 7739
62
(HPO:0000958) Dry skin 152 / 7739
63
(HPO:0011675) Arrhythmia 226 / 7739
64
(HPO:0000822) Hypertension 224 / 7739
65
(HPO:0003224) Increased cellular sensitivity to UV light 8 / 7739
66
(HPO:0003357) Thymic hormone decreased 2 / 7739
67
(HPO:0001324) Muscle weakness 859 / 7739
68
(HPO:0100699) Scarring 9 / 7739
69
(HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
70
(OMIM) Mild to moderate joint limitation 2 / 7739
71
(MedDRA:10003694) Atrophy 7 / 7739
72
(OMIM) Small, squared off pelvis 2 / 7739
73
(HPO:0002545) Patchy demyelination of subcortical white matter 3 / 7739
74
(OMIM) Irregular menstrual cycles 1 / 7739
75
(HPO:0002059) Cerebral atrophy 171 / 7739
76
(OMIM) Absent/hypoplastic teeth 2 / 7739
77
(OMIM) At least 2 complementation groups 2 / 7739
78
(OMIM) Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination 3 / 7739
79
(OMIM) Thin, dry hair 2 / 7739
80
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
81
(OMIM) Cachectic dwarfism 2 / 7739
82
(MedDRA:10067601) Dysmyelination 5 / 7739
83
(HPO:0002343) Normal pressure hydrocephalus 6 / 7739
84
(OMIM) Abnormal myelination in sural nerve biopsies 3 / 7739
85
(OMIM) Vertebral body abnormalities 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, ...
Clinical Description OMIM In 2 sibs of nonconsanguineous parents, Neill and Dingwall (1950) described a progeria-like syndrome characterized by dwarfism, microcephaly, severe mental retardation, 'pepper-and-salt' chorioretinitis, and intracranial calcification. The diagnosis may have been Cockayne syndrome. Death from early atherosclerosis occurred ...
Molecular genetics OMIM Henning et al. (1995) identified mutations in the ERCC8 gene in CSA cDNAs of all CSA cell lines examined, including an identical mutation in 2 CSA sibs (609412.0001).

In a cell line from an 11-year-old girl ...