SIDDT
MCID: SDD002
MIFTS: 28

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

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare 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 57 53 25 74 37 29 13 6 40 72
Siddt 57 53 25 59 74
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:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608800
KEGG 37 H02174
ICD10 via Orphanet 34 G90.8
UMLS via Orphanet 73 C1837371
Orphanet 59 ORPHA168593
MedGen 42 C1837371
UMLS 72 C1837371

Summaries for Sudden Infant Death with Dysgenesis of the Testes Syndrome

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. Infants with SIDDT who are genetically male, with one X chromosome and one Y chromosome in each cell, have underdeveloped or abnormal testes. They may also have external genitalia that appear female or that do not look clearly male or clearly female (ambiguous genitalia). In affected infants who are genetically female, with two X chromosomes in each cell, development of the internal and external reproductive organs is normal. SIDDT is associated with abnormal development of the brain, particularly the brainstem, which is the part of the brain that is connected to the spinal cord. The brainstem regulates many basic body functions, including heart rate, breathing, eating, and sleeping. It also relays information about movement and the senses between the brain and the rest of the body. Many features of SIDDT appear to be related to brainstem malfunction, including a slow or uneven heart rate, abnormal breathing patterns, difficulty controlling body temperature, unusual tongue and eye movements, abnormal reflexes, seizures, and feeding difficulties. Affected infants also have an unusual cry that has been described as similar to the bleating of a goat, which is probably a result of abnormal nerve connections between the brain and the voicebox (larynx). The brainstem abnormalities lead to death in the first year of life, when affected infants suddenly stop breathing or their heart stops beating (cardiorespiratory arrest).

MalaCards based summary : Sudden Infant Death with Dysgenesis of the Testes Syndrome, also known as siddt, is related to sudden infant death syndrome and 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, brain and heart, and related phenotypes are hypothermia and sleep apnea

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 168593DefinitionSudden 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 homozygous mutation 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.

KEGG : 37
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is an autosomal recessive syndrome that was first identified in an Old Order Amish community. Infants with SIDDT appear normal at birth, develop signs of visceral and autonomic dysfunction early in life, and die before 12 months of age of abrupt cardiorespiratory arrest. SIDDT was identified to be caused by loss of function mutations in the TSPYL1 gene.

UniProtKB/Swiss-Prot : 74 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.

More information 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 sudden infant death syndrome 10.1
2 mixed germ cell-sex cord neoplasm 9.2 TSPYL1 TSPY1

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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002045
2 sleep apnea 59 32 hallmark (90%) Very frequent (99-80%) HP:0010535
3 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
4 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
5 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
6 ambiguous genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000062
7 scrotal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000046
8 cardiac arrest 59 32 hallmark (90%) Very frequent (99-80%) HP:0001695
9 abnormal autonomic nervous system physiology 32 hallmark (90%) HP:0012332
10 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
11 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
12 ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000602
13 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
14 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
15 dysautonomia 59 Very frequent (99-80%)
16 feeding difficulties in infancy 32 HP:0008872
17 abnormality of the eye 32 HP:0000478
18 abnormality of metabolism/homeostasis 32 HP:0001939
19 arrhythmia 59 Very frequent (99-80%)
20 tongue fasciculations 32 HP:0001308
21 death in infancy 59 Very frequent (99-80%)
22 abnormal pattern of respiration 59 Very frequent (99-80%)
23 apnea 32 HP:0002104
24 laryngospasm 32 HP:0025425
25 ambiguous genitalia, male 32 HP:0000033
26 testicular dysgenesis 32 HP:0008715
27 stridor 32 HP:0010307
28 bradycardia 32 HP:0001662
29 cardiorespiratory arrest 32 HP:0006543
30 bronchospasm 32 HP:0025428
31 partial development of the penile shaft 32 HP:0008708
32 dysplastic testes 32 HP:0008733
33 staccato cry 32 HP:0025431

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
feeding difficulties
gastroesophageal reflux, severe

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

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

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

Head And Neck Mouth:
tongue fasciculations

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

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 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, Brain, Heart, Tongue, Eye, Spinal Cord, Testis

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 PMID 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. 38 8 71
15273283 2004
2
Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland. 38
25449952 2015
3
Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies. 38
17160900 2007
4
Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. 38
16418600 2006

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 GRCh37 Pos GRCh38 Pos
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 TSPYL1 TSPY1

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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