MCID: SDD002
MIFTS: 27

Sudden Infant Death with Dysgenesis of the Testes Syndrome

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Sudden Infant Death with Dysgenesis of the Testes Syndrome

MalaCards integrated aliases for Sudden Infant Death with Dysgenesis of the Testes Syndrome:

Name: Sudden Infant Death with Dysgenesis of the Testes Syndrome 53 49 24 71 28 13 69
Siddt 53 49 24 55 71
Sudden Infant Death-Dysgenesis of the Testes Syndrome 49 55
Sudden Infant Death - Dysgenesis of the Testes 49

Characteristics:

Orphanet epidemiological data:

55
sudden infant death-dysgenesis of the testes syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
affected infants appear normal at birth
symptoms develop immediately after birth
death occurs before 12 months of age due to cardiorespiratory arrest


HPO:

31
sudden infant death with dysgenesis of the testes syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sudden Infant Death with Dysgenesis of the Testes Syndrome

UniProtKB/Swiss-Prot : 71 Sudden infant death with dysgenesis of the testes syndrome: Autosomal recessive disorder. Affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. Features included bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT had fetal testicular dysgenesis and ambiguous genitalia, with findings such as intraabdominal testes, dysplastic testes, deficient fetal testosterone production, fusion and rugation of the gonadal sac, and partial development of the penile shaft. Female sexual development was normal. Affected infants had an unusual staccato cry, similar to the cry of a goat.

MalaCards based summary : Sudden Infant Death with Dysgenesis of the Testes Syndrome, is also known as siddt, and has symptoms including myoclonus, ophthalmoplegia and hypothermia. An important gene associated with Sudden Infant Death with Dysgenesis of the Testes Syndrome is TSPYL1 (TSPY Like 1). Affiliated tissues include testes, heart and eye.

Genetics Home Reference : 24 Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities of the reproductive system in males, feeding difficulties, and breathing problems.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Sudden infant death syndrome.

Description from OMIM: 608800

Related Diseases for Sudden Infant Death with Dysgenesis of the Testes Syndrome

Symptoms & Phenotypes for Sudden Infant Death with Dysgenesis of the Testes Syndrome

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
stridor
abnormal respiratory patterns
apnea (central and obstructive)

Genitourinary Internal Genitalia Male:
cryptorchidism
testicular dysgenesis
dysplastic testes
tortuous vascularity in the testes
arrested cell development in the testes
more
Cardiovascular Heart:
bradycardia
variable heart rate (range 52-250 beats per minute)

Neurologic Central Nervous System:
tongue fasciculations
facial nerve weakness
visceroautonomic dysfunction
decreased upper extremity reflexes
hyperactive startle reflex
more
Growth Other:
poor growth

Head And Neck Eyes:
ocular muscle palsies

Genitourinary:
variable maturation of genitalia in males

Laboratory Abnormalities:
abnormal response to human chorionic gonadotropin indicates decreased testosterone

Abdomen Gastroin testinal:
feeding difficulties
gastroesophageal reflux, severe

Genitourinary External Genitalia Male:
ambiguous genitalia
partial development of the penile shaft

Head And Neck Mouth:
tongue fasciculations

Respiratory Airways:
bronchospasm

Head And Neck Face:
facial nerve weakness

Respiratory Larynx:
laryngospasm

Voice:
staccato cry ('goat-like')


Clinical features from OMIM:

608800

Human phenotypes related to Sudden Infant Death with Dysgenesis of the Testes Syndrome:

55 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 55 31 frequent (33%) Frequent (79-30%) HP:0001336
2 ophthalmoplegia 55 31 frequent (33%) Frequent (79-30%) HP:0000602
3 hypothermia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002045
4 dysautonomia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002459
5 sleep apnea 55 31 hallmark (90%) Very frequent (99-80%) HP:0010535
6 gastroesophageal reflux 55 31 hallmark (90%) Very frequent (99-80%) HP:0002020
7 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
8 growth delay 55 31 frequent (33%) Frequent (79-30%) HP:0001510
9 abnormality of the voice 55 31 frequent (33%) Frequent (79-30%) HP:0001608
10 hypoplasia of penis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008736
11 hyporeflexia 55 31 frequent (33%) Frequent (79-30%) HP:0001265
12 ambiguous genitalia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000062
13 scrotal hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000046
14 cardiac arrest 55 31 hallmark (90%) Very frequent (99-80%) HP:0001695
15 stridor 31 HP:0010307
16 feeding difficulties in infancy 31 HP:0008872
17 abnormality of the eye 31 HP:0000478
18 abnormality of metabolism/homeostasis 31 HP:0001939
19 arrhythmia 55 Very frequent (99-80%)
20 death in infancy 55 Very frequent (99-80%)
21 apnea 31 HP:0002104
22 ambiguous genitalia, male 31 HP:0000033
23 abnormal pattern of respiration 55 Very frequent (99-80%)
24 testicular dysgenesis 31 HP:0008715
25 cardiorespiratory arrest 31 HP:0006543
26 bradycardia 31 HP:0001662
27 tongue fasciculations 31 HP:0001308
28 bronchospasm 31 HP:0025428
29 laryngospasm 31 HP:0025425
30 partial development of the penile shaft 31 HP:0008708
31 dysplastic testes 31 HP:0008733
32 staccato cry 31 HP:0025431

UMLS symptoms related to Sudden Infant Death with Dysgenesis of the Testes Syndrome:


stridor

Drugs & Therapeutics for Sudden Infant Death with Dysgenesis of the Testes Syndrome

Search Clinical Trials , NIH Clinical Center for Sudden Infant Death with Dysgenesis of the Testes Syndrome

Genetic Tests for Sudden Infant Death with Dysgenesis of the Testes Syndrome

Genetic tests related to Sudden Infant Death with Dysgenesis of the Testes Syndrome:

# Genetic test Affiliating Genes
1 Sudden Infant Death with Dysgenesis of the Testes Syndrome 28 TSPYL1

Anatomical Context for Sudden Infant Death with Dysgenesis of the Testes Syndrome

MalaCards organs/tissues related to Sudden Infant Death with Dysgenesis of the Testes Syndrome:

38
Testes, Heart, Eye, Tongue

Publications for Sudden Infant Death with Dysgenesis of the Testes Syndrome

Articles related to Sudden Infant Death with Dysgenesis of the Testes Syndrome:

# Title Authors Year
1
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. ( 15273283 )
2004

Variations for Sudden Infant Death with Dysgenesis of the Testes Syndrome

ClinVar genetic disease variations for Sudden Infant Death with Dysgenesis of the Testes Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSPYL1 TSPYL1, 1-BP INS, 457G insertion Pathogenic

Expression for Sudden Infant Death with Dysgenesis of the Testes Syndrome

Search GEO for disease gene expression data for Sudden Infant Death with Dysgenesis of the Testes Syndrome.

Pathways for Sudden Infant Death with Dysgenesis of the Testes Syndrome

GO Terms for Sudden Infant Death with Dysgenesis of the Testes Syndrome

Biological processes related to Sudden Infant Death with Dysgenesis of the Testes Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleosome assembly GO:0006334 8.62 TSPY1 TSPYL1

Sources for Sudden Infant Death with Dysgenesis of the Testes Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 MedGen
41 MeSH
42 MESH via Orphanet
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45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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