COCKAYNE SYNDROME B

General Information (adopted from Orphanet):

Synonyms, Signs: CSB
Number of Symptoms 73
OrphanetNr:
OMIM Id: 133540
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:0000054) Micropenis 257 / 7739
2
 (HPO:0000093) Proteinuria 169 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000083) Renal insufficiency 232 / 7739
5
 (HPO:0000680) Delayed eruption of primary teeth 10 / 7739
6
 (HPO:0000670) Carious teeth 145 / 7739
7
 (HPO:0000568) Microphthalmia 183 / 7739
8
 (HPO:0002684) Thickened calvaria 32 / 7739
9
 (HPO:0000303) Mandibular prognathia 179 / 7739
10
 (HPO:0000417) Slender nose 5 / 7739
11
 (HPO:0000252) Microcephaly 832 / 7739
12
 (HPO:0000292) Loss of facial adipose tissue 6 / 7739
13
 (HPO:0000689) Dental malocclusion 114 / 7739
14
 (HPO:0000540) Hypermetropia 99 / 7739
15
 (HPO:0000486) Strabismus 576 / 7739
16
 (HPO:0000648) Optic atrophy 238 / 7739
17
 (HPO:0000639) Nystagmus 555 / 7739
18
 (HPO:0000518) Cataract 454 / 7739
19
 (HPO:0000633) Decreased lacrimation 6 / 7739
20
 (HPO:0000482) Microcornea 102 / 7739
21
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
22
 (HPO:0007957) Corneal opacity 84 / 7739
23
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
24
 (HPO:0000377) Abnormality of the pinna 111 / 7739
25
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
26
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
27
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
28
 (HPO:0009830) Peripheral neuropathy 206 / 7739
29
 (HPO:0001249) Intellectual disability 1089 / 7739
30
 (HPO:0000762) Decreased nerve conduction velocity 36 / 7739
31
 (HPO:0001251) Ataxia 413 / 7739
32
 (HPO:0001337) Tremor 200 / 7739
33
 (HPO:0001250) Seizures 1245 / 7739
34
 (HPO:0010234) Ivory epiphyses of the phalanges of the hand 3 / 7739
35
 (HPO:0007346) Subcortical white matter calcifications 2 / 7739
36
 (HPO:0002135) Basal ganglia calcification 37 / 7739
37
 (HPO:0002808) Kyphosis 289 / 7739
38
 (HPO:0000939) Osteoporosis 129 / 7739
39
 (HPO:0002866) Hypoplastic iliac wing 34 / 7739
40
 (HPO:0007352) Cerebellar calcifications 2 / 7739
41
 (HPO:0002240) Hepatomegaly 467 / 7739
42
 (HPO:0001744) Splenomegaly 337 / 7739
43
 (HPO:0001518) Small for gestational age 107 / 7739
44
 (HPO:0008897) Postnatal growth retardation 113 / 7739
45
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
46
 (HPO:0001525) Severe failure to thrive 13 / 7739
47
 (HPO:0007495) Prematurely aged appearance 44 / 7739
48
 (HPO:0005328) Progeroid facial appearance 13 / 7739
49
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
50
 (HPO:0000970) Anhidrosis 24 / 7739
51
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
52
 (HPO:0000958) Dry skin 152 / 7739
53
 (HPO:0011675) Arrhythmia 226 / 7739
54
 (HPO:0000822) Hypertension 224 / 7739
55
 (HPO:0003224) Increased cellular sensitivity to UV light 8 / 7739
56
 (HPO:0001324) Muscle weakness 859 / 7739
57
 (HPO:0100699) Scarring 9 / 7739
58
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
59
 (MedDRA:10003694) Atrophy 7 / 7739
60
 (OMIM) Vertebral body abnormalities 3 / 7739
61
 (OMIM) Cachectic dwarfism 2 / 7739
62
 (OMIM) Abnormal myelination in sural nerve biopsies 3 / 7739
63
 (MedDRA:10067601) Dysmyelination 5 / 7739
64
 (OMIM) Mild to moderate joint limitation 2 / 7739
65
 (OMIM) Small, squared off pelvis 2 / 7739
66
 (OMIM) Absent/hypoplastic teeth 2 / 7739
67
 (OMIM) Thin, dry hair 2 / 7739
68
 (HPO:0002343) Normal pressure hydrocephalus 6 / 7739
69
 (HPO:0002545) Patchy demyelination of subcortical white matter 3 / 7739
70
 (OMIM) Poor-absent neurologic development 1 / 7739
71
 (OMIM) Intervertebral calcifications 1 / 7739
72
 (HPO:0002059) Cerebral atrophy 171 / 7739
73
 (OMIM) Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Falik-Zaccai et al. (2008) reported a large, highly consanguineous Druze kindred from northern Israel in which 6 members had Cockayne syndrome B. All 6 presented with the congenital severe phenotype that included severe failure to thrive, severe mental ...
Molecular genetics OMIM In 16 patients with Cockayne syndrome B, Mallery et al. (1998) identified 18 inactivating mutations in the ERCC6 gene (see, e.g., 609413.0001-609413.0003). Neither the site nor the nature of the mutation correlated with the severity of the clinical ...