Hydrocephalus - blue sclerae - nephropathy

General Information (adopted from Orphanet):

Synonyms, Signs: Daentl-Townsend-Siegel syndrome
Number of Symptoms 27
OrphanetNr: 2186
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000112) Nephropathy Very frequent [Orphanet] 92 / 7739
2
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
3
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
6
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
7
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
8
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
9
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
10
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
11
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
12
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
13
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
14
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
15
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
16
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
17
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
18
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
19
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
20
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
21
 (HPO:0001888) Lymphopenia Very frequent [Orphanet] 43 / 7739
22
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
23
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
24
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
25
 (HPO:0010515) Aplasia/Hypoplasia of the thymus Very frequent [Orphanet] 17 / 7739
26
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 20 / 7739
27
 (HPO:0001334) Communicating hydrocephalus Very frequent [Orphanet] 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: