SIDDT
MCID: SDD002
MIFTS: 27

Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT)

Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory 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 58 54 26 76 38 30 13 6 41 74
Siddt 58 54 26 60 76
Sudden Infant Death-Dysgenesis of the Testes Syndrome 54 60
Sudden Infant Death - Dysgenesis of the Testes 54

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
sudden infant death with dysgenesis of the testes syndrome:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sudden Infant Death with Dysgenesis of the Testes Syndrome

NIH Rare Diseases : 54 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, also known as siddt, is related to mixed germ cell-sex cord neoplasm, 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 hypothermia and sleep apnea

Genetics Home Reference : 26 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 : 76 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

Diseases related to Sudden Infant Death with Dysgenesis of the Testes Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mixed germ cell-sex cord neoplasm 9.5 TSPY1 TSPYL1

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

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

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothermia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002045
2 sleep apnea 60 33 hallmark (90%) Very frequent (99-80%) HP:0010535
3 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
4 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
5 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
6 ambiguous genitalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000062
7 scrotal hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000046
8 cardiac arrest 60 33 hallmark (90%) Very frequent (99-80%) HP:0001695
9 abnormal autonomic nervous system physiology 33 hallmark (90%) HP:0012332
10 myoclonus 60 33 frequent (33%) Frequent (79-30%) HP:0001336
11 growth delay 60 33 frequent (33%) Frequent (79-30%) HP:0001510
12 ophthalmoplegia 60 33 frequent (33%) Frequent (79-30%) HP:0000602
13 abnormality of the voice 60 33 frequent (33%) Frequent (79-30%) HP:0001608
14 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
15 dysautonomia 60 Very frequent (99-80%)
16 feeding difficulties in infancy 33 HP:0008872
17 abnormality of the eye 33 HP:0000478
18 abnormality of metabolism/homeostasis 33 HP:0001939
19 arrhythmia 60 Very frequent (99-80%)
20 death in infancy 60 Very frequent (99-80%)
21 apnea 33 HP:0002104
22 laryngospasm 33 HP:0025425
23 ambiguous genitalia, male 33 HP:0000033
24 abnormal pattern of respiration 60 Very frequent (99-80%)
25 testicular dysgenesis 33 HP:0008715
26 stridor 33 HP:0010307
27 cardiorespiratory arrest 33 HP:0006543
28 tongue fasciculations 33 HP:0001308
29 bradycardia 33 HP:0001662
30 bronchospasm 33 HP:0025428
31 partial development of the penile shaft 33 HP:0008708
32 dysplastic testes 33 HP:0008733
33 staccato cry 33 HP:0025431

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
feeding difficulties
gastroesophageal reflux, severe

Respiratory Larynx:
laryngospasm

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

Genitourinary:
variable maturation of genitalia in males

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

Genitourinary Internal Genitalia Male:
cryptorchidism
testicular dysgenesis
dysplastic testes
tortuous vascularity in the testes
arrested cell development in the testes
more
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

Voice:
staccato cry ('goat-like')

Clinical features from OMIM:

608800

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 30 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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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