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 57 53 25 75 29 13 6 40 73
Siddt 57 53 25 59 75
Sudden Infant Death-Dysgenesis of the Testes Syndrome 53 59
Sudden Infant Death - Dysgenesis of the Testes 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 168593Disease definitionSudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.EpidemiologySIDDT syndrome has been described in 21 infants from nine separate sibships among the Old Order Amish.Clinical descriptionInfants with SIDDT syndrome appear normal at birth except that they are often recognized by the unusual staccato sound of their cry. Within the first months of life, they develop signs of viscera-autonomic nerve dysfunction including bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep. XY males have testicular dysgenesis and ambiguous genitalia. Female sexual development is normal.EtiologySIDDT syndrome is caused by homozygousmutation in the testis-specific protein Y-like-1 gene, TSPYL1 on chromosome 6 (6q22.1-q22.31).Genetic counselingThe syndrome follows an autosomal recessive pattern of inheritance.PrognosisPrognosis is very poor: infants die before 12 months of age of sudden cardiorespiratory arrest.Visit the Orphanet disease page for more resources.

MalaCards based summary : Sudden Infant Death with Dysgenesis of the Testes Syndrome, is also known as siddt, and has symptoms including stridor An important gene associated with Sudden Infant Death with Dysgenesis of the Testes Syndrome is TSPYL1 (TSPY Like 1). Affiliated tissues include testes, testis and tongue, and related phenotypes are cryptorchidism and scrotal hypoplasia

Genetics Home Reference : 25 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.

UniProtKB/Swiss-Prot : 75 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.

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:

57
Abdomen Gastrointestinal:
feeding difficulties
gastroesophageal reflux, severe

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

Head And Neck Mouth:
tongue fasciculations

Cardiovascular Heart:
bradycardia
variable heart rate (range 52-250 beats per minute)

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism
testicular dysgenesis
dysplastic testes
tortuous vascularity in the testes
arrested cell development in the testes
more
Respiratory:
stridor
abnormal respiratory patterns
apnea (central and obstructive)

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

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 scrotal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000046
3 ambiguous genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000062
4 ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000602
5 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
6 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
7 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
8 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
9 cardiac arrest 59 32 hallmark (90%) Very frequent (99-80%) HP:0001695
10 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
11 hypothermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002045
12 dysautonomia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002459
13 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
14 sleep apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0010535
15 death in infancy 59 Very frequent (99-80%)
16 abnormal pattern of respiration 59 Very frequent (99-80%)
17 arrhythmia 59 Very frequent (99-80%)
18 ambiguous genitalia, male 32 HP:0000033
19 abnormality of the eye 32 HP:0000478
20 tongue fasciculations 32 HP:0001308
21 bradycardia 32 HP:0001662
22 abnormality of metabolism/homeostasis 32 HP:0001939
23 apnea 32 HP:0002104
24 cardiorespiratory arrest 32 HP:0006543
25 partial development of the penile shaft 32 HP:0008708
26 testicular dysgenesis 32 HP:0008715
27 dysplastic testes 32 HP:0008733
28 feeding difficulties in infancy 32 HP:0008872
29 stridor 32 HP:0010307
30 laryngospasm 32 HP:0025425
31 bronchospasm 32 HP:0025428
32 staccato cry 32 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 29 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:

41
Testes, Testis, Tongue, Heart, Eye

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....