Deafness - lymphedema - leukemia

General Information (adopted from Orphanet):

Synonyms, Signs: emberger syndrome
Number of Symptoms 42
OrphanetNr: 3226
OMIM Id: 614038
ICD-10: Q82.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Tumor of hematopoietic and lymphoid tissues
 -Rare hematologic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000601) Hypotelorism rare [HPO:skoehler] 83 / 7739
2
 (HPO:0000465) Webbed neck rare [HPO:skoehler] 81 / 7739
3
 (HPO:0000286) Epicanthus rare [HPO:skoehler] 371 / 7739
4
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
5
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
7
 (HPO:0002141) Gait imbalance Frequent [Orphanet] 55 / 7739
8
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
9
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
10
 (HPO:0001182) Tapered finger rare [HPO:skoehler] 93 / 7739
11
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
12
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
13
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
14
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
15
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
16
 (HPO:0000980) Pallor Frequent [Orphanet] 52 / 7739
17
 (HPO:0002170) Intracranial hemorrhage Frequent [Orphanet] 40 / 7739
18
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
19
 (HPO:0100724) Hypercoagulability Frequent [Orphanet] 15 / 7739
20
 (HPO:0002488) Acute leukemia Very frequent [Orphanet] 29 / 7739
21
 (HPO:0002863) Myelodysplasia 30 / 7739
22
 (HPO:0001909) Leukemia Occasional [Orphanet] 46 / 7739
23
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
24
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
25
 (HPO:0001974) Leukocytosis Occasional [Orphanet] 33 / 7739
26
 (HPO:0001876) Pancytopenia Very frequent [Orphanet] 89 / 7739
27
 (HPO:0004808) Acute myeloid leukemia 14 / 7739
28
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
29
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
30
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
31
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
32
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
33
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
34
 (HPO:0100658) Cellulitis 7 / 7739
35
 (OMIM) Long, tapering fingers 2 / 7739
36
 (OMIM) Deafness, congenital sensorineural, profound (in some patients) 2 / 7739
37
 (OMIM) Cellulitis, recurrent 2 / 7739
38
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
39
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
40
 (OMIM) Lymphedema, lower extremities 3 / 7739
41
 (OMIM) Bone marrow monosomy 7 1 / 7739
42
 (OMIM) Warts, generalized (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Emberger et al. (1979) reported a family in which 3 individuals over 2 generations, who had severe congenital deafness, also developed lower limb lymphedema in childhood and hematologic abnormalities, including pancytopenia in 2 of them and acute myeloblastic ...
Molecular genetics OMIM Ostergaard et al. (2011) performed whole-exome sequencing in 3 unrelated individuals with primary lymphedema and myelodysplasia, 2 with familial disease who were previously studied by Mansour et al. (2010) and 1 with sporadic disease, and identified a different ...