WAARDENBURG SYNDROME, TYPE 2E

General Information (adopted from Orphanet):

Synonyms, Signs: WAARDENBURG SYNDROME, TYPE IIE
HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION
WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT
WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT
WS2E
Number of Symptoms 43
OrphanetNr:
OMIM Id: 611584
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000458) Anosmia rare [HPO:skoehler] 49 / 7739
2
 (HPO:0002227) White eyelashes 11 / 7739
3
 (HPO:0002226) White eyebrow 10 / 7739
4
 (HPO:0007990) Hypoplastic iris stroma 9 / 7739
5
 (HPO:0008053) Aplasia/Hypoplasia of the iris 38 / 7739
6
 (HPO:0007894) Hypopigmentation of the fundus 14 / 7739
7
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
8
 (HPO:0001100) Heterochromia iridis 31 / 7739
9
 (HPO:0000635) Blue irides 25 / 7739
10
 (HPO:0001089) Iris atrophy 8 / 7739
11
 (HPO:0001107) Ocular albinism rare [HPO:skoehler] 40 / 7739
12
 (HPO:0000639) Nystagmus 555 / 7739
13
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
14
 (HPO:0011382) Hypoplasia of the semicircular canal 2 / 7739
15
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
16
 (HPO:0011379) Dilated vestibule of the inner ear 1 / 7739
17
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
18
 (HPO:0011381) Aplasia of the semicircular canal 1 / 7739
19
 (HPO:0001276) Hypertonia 317 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0001263) Global developmental delay 853 / 7739
22
 (HPO:0000767) Pectus excavatum 244 / 7739
23
 (HPO:0001480) Freckling 13 / 7739
24
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
25
 (HPO:0002211) White forelock 18 / 7739
26
 (HPO:0001053) Hypopigmented skin patches 80 / 7739
27
 (HPO:0002216) Premature graying of hair 43 / 7739
28
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
29
 (HPO:0006808) Cerebral hypomyelination 16 / 7739
30
 (OMIM) Dilatation of the vestibule 1 / 7739
31
 (HPO:0001425) Heterogeneous 132 / 7739
32
 (OMIM) Vestibular malformation 1 / 7739
33
 (OMIM) Delayed deciduous tooth eruption (reported in 1 patient) 1 / 7739
34
 (OMIM) Absence of the cochlear nerves (reported in 1 patient) 1 / 7739
35
 (OMIM) Brain hypomyelination 2 / 7739
36
 (OMIM) A subset of patients have neurologic abnormalities 1 / 7739
37
 (OMIM) Irregularly placed dentition (reported in 1 patient) 1 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
39
 (OMIM) Bright blue eyes 3 / 7739
40
 (OMIM) Large central incisors (reported in 1 patient) 1 / 7739
41
 (OMIM) Hypoplasia or agenesis of the semicircular canals 1 / 7739
42
 (HPO:0003812) Phenotypic variability 129 / 7739
43
 (OMIM) Absence of the olfactory bulbs (reported in 1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, ...
Clinical Description OMIM Hennekam and Gorlin (1996) described a girl with bilateral sensorineural hearing loss, completely white anterior scalp hair, multiple freckles, and hypopigmentation of the right hand and foot and left fingers and toes. She also had nystagmus that spontaneously ...
Molecular genetics OMIM In a girl with a mild form of Waardenburg syndrome type 2E reported by Hennekam and Gorlin (1996), Bondurand et al. (1999) identified a heterozygous mutation in the SOX10 gene (S135T; 602229.0005).

Using a combination of ...