MCID: SCK037
MIFTS: 21

Seckel Syndrome 9

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Bone diseases

Aliases & Classifications for Seckel Syndrome 9

MalaCards integrated aliases for Seckel Syndrome 9:

Name: Seckel Syndrome 9 57 12 75 6
Sckl9 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
patients may die in infancy or childhood due to respiratory failure


HPO:

32
seckel syndrome 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 9

UniProtKB/Swiss-Prot : 75 Seckel syndrome 9: A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.

MalaCards based summary : Seckel Syndrome 9, is also known as sckl9. An important gene associated with Seckel Syndrome 9 is TRAIP (TRAF Interacting Protein). Affiliated tissues include kidney and cortex, and related phenotypes are global developmental delay and recurrent respiratory infections

Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the TRAIP gene on chromosome 3p21.

Description from OMIM: 616777

Related Diseases for Seckel Syndrome 9

Symptoms & Phenotypes for Seckel Syndrome 9

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly
scaphocephaly (in some patients)

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Male:
ambiguous genitalia
urogenital sinus

Skin Nails Hair Hair:
hypertrichosis

Head And Neck Ears:
prominent ears

Skeletal Feet:
club feet

Chest Diaphragm:
diaphragmatic hernia

Prenatal Manifestations Movement:
decreased fetal movements

Cardiovascular Vascular:
pulmonary artery hypoplasia, severe (in some patients)

Skeletal Skull:
microcephaly
scaphocephaly (in some patients)

Head And Neck Face:
micrognathia
long narrow face

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary Kidneys:
recurrent urinary tract infections
enlarged kidneys
multiple calyceal cysts

Genitourinary External Genitalia Female:
clitoral hypertrophy
underdeveloped labial folds

Head And Neck Nose:
beaked nose

Growth Weight:
low birth weight

Neurologic Central Nervous System:
enlarged ventricular system
developmental delay, mild to moderate
simplified gyri
reduced cerebral cortex

Respiratory Lung:
recurrent severe infections
asthma (rare)

GenitourinaryInternal GenitaliaMale:
agonadism


Clinical features from OMIM:

616777

Human phenotypes related to Seckel Syndrome 9:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 very rare (1%) HP:0001263
2 recurrent respiratory infections 32 very rare (1%) HP:0002205
3 microcephaly 32 very rare (1%) HP:0000252
4 short stature 32 very rare (1%) HP:0004322
5 micrognathia 32 very rare (1%) HP:0000347
6 intrauterine growth retardation 32 very rare (1%) HP:0001511
7 atrial septal defect 32 HP:0001631
8 protruding ear 32 very rare (1%) HP:0000411
9 ventriculomegaly 32 very rare (1%) HP:0002119
10 narrow face 32 very rare (1%) HP:0000275
11 polyhydramnios 32 HP:0001561
12 long face 32 very rare (1%) HP:0000276
13 ventricular septal defect 32 HP:0001629
14 talipes equinovarus 32 HP:0001762
15 asthma 32 occasional (7.5%) HP:0002099
16 recurrent urinary tract infections 32 HP:0000010
17 convex nasal ridge 32 HP:0000444
18 decreased fetal movement 32 HP:0001558
19 ambiguous genitalia 32 HP:0000062
20 congenital diaphragmatic hernia 32 HP:0000776
21 small for gestational age 32 HP:0001518
22 pulmonary artery hypoplasia 32 occasional (7.5%) HP:0004971
23 clitoral hypertrophy 32 HP:0008665
24 hypertrichosis 32 HP:0000998
25 cortical gyral simplification 32 very rare (1%) HP:0009879
26 scaphocephaly 32 very rare (1%) HP:0030799

Drugs & Therapeutics for Seckel Syndrome 9

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 9

Genetic Tests for Seckel Syndrome 9

Anatomical Context for Seckel Syndrome 9

MalaCards organs/tissues related to Seckel Syndrome 9:

41
Kidney, Cortex

Publications for Seckel Syndrome 9

Variations for Seckel Syndrome 9

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 9:

75
# Symbol AA change Variation ID SNP ID
1 TRAIP p.Arg18Cys VAR_076530 rs864622784

ClinVar genetic disease variations for Seckel Syndrome 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRAIP NM_005879.2(TRAIP): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs767664526 GRCh38 Chromosome 3, 49841890: 49841890
2 TRAIP NM_005879.2(TRAIP): c.553C> T (p.Arg185Ter) single nucleotide variant Pathogenic rs767664526 GRCh37 Chromosome 3, 49879323: 49879323
3 TRAIP NM_005879.2(TRAIP): c.52C> T (p.Arg18Cys) single nucleotide variant Pathogenic rs864622784 GRCh37 Chromosome 3, 49893835: 49893835
4 TRAIP NM_005879.2(TRAIP): c.52C> T (p.Arg18Cys) single nucleotide variant Pathogenic rs864622784 GRCh38 Chromosome 3, 49856402: 49856402

Expression for Seckel Syndrome 9

Search GEO for disease gene expression data for Seckel Syndrome 9.

Pathways for Seckel Syndrome 9

GO Terms for Seckel Syndrome 9

Sources for Seckel Syndrome 9

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
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