Sudden infant death - dysgenesis of the testes

General Information (adopted from Orphanet):

Synonyms, Signs: SIDDT
Number of Symptoms 51
OrphanetNr: 168593
OMIM Id: 608800
ICD-10: G90.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 21 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic respiratory disease
 -Rare genetic disease
Rare pulmonary disease
 -Rare respiratory disease
Syndrome with 46,XY disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0011968) Feeding difficulties 240 / 7739
2
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
3
 (HPO:0000597) Ophthalmoparesis Frequent [Orphanet] 71 / 7739
4
 (HPO:0002099) Asthma Very frequent [Orphanet] 62 / 7739
5
 (HPO:0006543) Cardiorespiratory arrest 11 / 7739
6
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
7
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
8
 (HPO:0011675) Arrhythmia Very frequent [Orphanet] 226 / 7739
9
 (HPO:0001662) Bradycardia 41 / 7739
10
 (HPO:0001695) Cardiac arrest Very frequent [Orphanet] 87 / 7739
11
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
12
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
13
 (HPO:0001308) Tongue fasciculations 18 / 7739
14
 (HPO:0002270) Abnormality of the autonomic nervous system Very frequent [Orphanet] 22 / 7739
15
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
16
 (HPO:0002045) Hypothermia Very frequent [Orphanet] 27 / 7739
17
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
18
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
19
 (HPO:0000478) Abnormality of the eye 126 / 7739
20
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
21
 (HPO:0008708) Partial development of the penile shaft 1 / 7739
22
 (HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
23
 (HPO:0000033) Ambiguous genitalia, male 9 / 7739
24
 (HPO:0000028) Cryptorchidism 347 / 7739
25
 (HPO:0000062) Ambiguous genitalia Very frequent [Orphanet] 74 / 7739
26
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
27
 (HPO:0008733) Dysplastic testes 1 / 7739
28
 (HPO:0008715) Testicular dysgenesis 2 / 7739
29
 (HPO:0002104) Apnea Very frequent [Orphanet] 106 / 7739
30
 (HPO:0002793) Abnormal pattern of respiration Very frequent [Orphanet] 26 / 7739
31
 (HPO:0010307) Stridor 19 / 7739
32
 (HPO:0001510) Growth delay 295 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
34
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
35
 (MedDRA:10023891) Laryngospasm 4 / 7739
36
 (OMIM) Abnormal response to human chorionic gonadotropin indicates decreased testosterone 1 / 7739
37
 (OMIM) Absence of neuropathologic findings in the brainstem and anterior horn cells 1 / 7739
38
 (OMIM) Arrested cell development in the testes 1 / 7739
39
 (OMIM) Decreased number of Leydig cells 1 / 7739
40
 (OMIM) Decreased number of Sertoli cells 1 / 7739
41
 (OMIM) Decreased upper extremity reflexes 1 / 7739
42
 (OMIM) Facial nerve weakness 1 / 7739
43
 (OMIM) Gastroesophageal reflux, severe 3 / 7739
44
 (OMIM) Hyperactive startle reflex 1 / 7739
45
 (OMIM) Ocular muscle palsies 1 / 7739
46
 (OMIM) Ocular palsies 1 / 7739
47
 (OMIM) Staccato cry ('goat-like') 1 / 7739
48
 (OMIM) Tortuous vascularity in the testes 1 / 7739
49
 (OMIM) Variable heart rate (range 52-250 beats per minute) 1 / 7739
50
 (OMIM) Variable maturation of genitalia in males 1 / 7739
51
 (OMIM) Visceroautonomic dysfunction 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Puffenberger et al. (2004) identified a previously unrecognized syndrome, termed sudden infant death with dysgenesis of the testes (SIDDT), in 21 individuals from 9 sibships among the Belleville Old Order Amish community. The condition was not seen among ...
Molecular genetics OMIM In 21 affected patients with SIDDT, Puffenberger et al. (2004) identified a homozygous mutation in the TSPYL1 gene (604714.0001). All parents of affected infants were heterozygous for the mutation, and no unaffected sibs were homozygous for the mutation. ...