MCID: SDD002
MIFTS: 28

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 54 50 24 25 71 29 13 69
Siddt 50 24 25 56 71
Sudden Infant Death-Dysgenesis of the Testes Syndrome 50 56
Sudden Infant Death - Dysgenesis of the Testes 50

Characteristics:

Orphanet epidemiological data:

56
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:

54
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

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, also known as siddt, is related to arthropathy, progressive pseudorheumatoid, of childhood, and has symptoms including myoclonus, hyporeflexia and ambiguous genitalia. 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 tongue.

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.

NIH Rare Diseases : 50 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

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

id Related Disease Score Top Affiliating Genes
1 arthropathy, progressive pseudorheumatoid, of childhood 9.5 TSPY1 TSPYL1

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

Symptoms via clinical synopsis from OMIM:

54

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

Genitourinary- Internal Genitalia Male:
cryptorchidism
testicular dysgenesis
dysplastic testes
tortuous vascularity in the testes
arrested cell development in the testes
more
Abdomen- Gastroin testinal:
feeding difficulties
gastroesophageal reflux, severe

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

Respiratory- Larynx:
laryngospasm

Genitourinary:
variable maturation of genitalia in males

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

Growth- Other:
poor growth

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

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

Head And Neck- Mouth:
tongue fasciculations

Head And Neck- Eyes:
ocular muscle palsies

Respiratory- Airways:
bronchospasm

Voice:
staccato cry ('goat-like')


Clinical features from OMIM:

608800

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

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 56 32 frequent (33%) Frequent (79-30%) HP:0001336
2 hyporeflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001265
3 ambiguous genitalia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000062
4 gastroesophageal reflux 56 32 hallmark (90%) Very frequent (99-80%) HP:0002020
5 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
6 scrotal hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000046
7 hypothermia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002045
8 ophthalmoplegia 56 32 frequent (33%) Frequent (79-30%) HP:0000602
9 cardiac arrest 56 32 hallmark (90%) Very frequent (99-80%) HP:0001695
10 sleep apnea 56 32 hallmark (90%) Very frequent (99-80%) HP:0010535
11 dysautonomia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002459
12 growth delay 56 32 frequent (33%) Frequent (79-30%) HP:0001510
13 hypoplasia of penis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008736
14 abnormality of the voice 56 32 frequent (33%) Frequent (79-30%) HP:0001608
15 apnea 32 HP:0002104
16 arrhythmia 56 Very frequent (99-80%)
17 bradycardia 32 HP:0001662
18 feeding difficulties in infancy 32 HP:0008872
19 death in infancy 56 Very frequent (99-80%)
20 stridor 32 HP:0010307
21 tongue fasciculations 32 HP:0001308
22 partial development of the penile shaft 32 HP:0008708
23 testicular dysgenesis 32 HP:0008715
24 dysplastic testes 32 HP:0008733
25 abnormality of the eye 32 HP:0000478
26 abnormality of metabolism/homeostasis 32 HP:0001939
27 ambiguous genitalia, male 32 HP:0000033
28 abnormal pattern of respiration 56 Very frequent (99-80%)
29 cardiorespiratory arrest 32 HP:0006543

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:

id Genetic test Affiliating Genes
1 Sudden Infant Death with Dysgenesis of the Testes Syndrome 29 24 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:

39
Testes, Heart, Tongue, Eye

Publications for Sudden Infant Death with Dysgenesis of the Testes Syndrome

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

id 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
id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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