SGBS2
MCID: SMP005
MIFTS: 35

Simpson-Golabi-Behmel Syndrome, Type 2 (SGBS2)

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

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome, Type 2

MalaCards integrated aliases for Simpson-Golabi-Behmel Syndrome, Type 2:

Name: Simpson-Golabi-Behmel Syndrome, Type 2 58 30 13 6 74
Simpson-Golabi-Behmel Syndrome Type 2 12 15
Sgbs2 58 76
X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome 60
Syndrome, Simpson-Golabi-Behmel, Type 2 41
Simpson-Golabi-Behmel Syndrome 2 76

Characteristics:

Orphanet epidemiological data:

60
x-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
one family has been reported (last curated march 2016)
severe phenotype
death in infancy may occur


HPO:

33
simpson-golabi-behmel syndrome, type 2:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Simpson-Golabi-Behmel Syndrome, Type 2

UniProtKB/Swiss-Prot : 76 Simpson-Golabi-Behmel syndrome 2: A severe variant of Simpson-Golabi-Behmel syndrome, a condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations.

MalaCards based summary : Simpson-Golabi-Behmel Syndrome, Type 2, also known as simpson-golabi-behmel syndrome type 2, is related to simpson-golabi-behmel syndrome and simpson-golabi-behmel syndrome, type 1. An important gene associated with Simpson-Golabi-Behmel Syndrome, Type 2 is OFD1 (OFD1 Centriole And Centriolar Satellite Protein). Affiliated tissues include skin, kidney and bone, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 A X-linked recessive disease that has material basis in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.

Description from OMIM: 300209

Related Diseases for Simpson-Golabi-Behmel Syndrome, Type 2

Graphical network of the top 20 diseases related to Simpson-Golabi-Behmel Syndrome, Type 2:



Diseases related to Simpson-Golabi-Behmel Syndrome, Type 2

Symptoms & Phenotypes for Simpson-Golabi-Behmel Syndrome, Type 2

Human phenotypes related to Simpson-Golabi-Behmel Syndrome, Type 2:

33 (show all 41)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hypertelorism 33 HP:0000316
3 low-set ears 33 HP:0000369
4 short neck 33 HP:0000470
5 clinodactyly 33 HP:0030084
6 high palate 33 HP:0000218
7 muscular hypotonia 33 HP:0001252
8 inguinal hernia 33 HP:0000023
9 coarse facial features 33 HP:0000280
10 short nose 33 HP:0003196
11 anteverted nares 33 HP:0000463
12 intellectual disability, severe 33 HP:0010864
13 cleft palate 33 HP:0000175
14 recurrent upper respiratory tract infections 33 HP:0002788
15 epicanthus 33 HP:0000286
16 dolichocephaly 33 HP:0000268
17 wide intermamillary distance 33 HP:0006610
18 thickened nuchal skin fold 33 HP:0000474
19 congenital hip dislocation 33 HP:0001374
20 talipes equinovarus 33 HP:0001762
21 intellectual disability, progressive 33 HP:0006887
22 wide mouth 33 HP:0000154
23 small nail 33 HP:0001792
24 multicystic kidney dysplasia 33 HP:0000003
25 thin upper lip vermilion 33 HP:0000219
26 deep philtrum 33 HP:0002002
27 pneumonia 33 HP:0002090
28 short finger 33 HP:0009381
29 wide nose 33 HP:0000445
30 tapered finger 33 HP:0001182
31 micropenis 33 HP:0000054
32 generalized hypotonia 33 HP:0001290
33 single transverse palmar crease 33 HP:0000954
34 broad palm 33 HP:0001169
35 hyperactive deep tendon reflexes 33 HP:0006801
36 posteriorly rotated ears 33 HP:0000358
37 u-shaped upper lip vermilion 33 HP:0010806
38 radial deviation of finger 33 HP:0009466
39 facial capillary hemangioma 33 HP:0000996
40 scaphocephaly 33 HP:0030799
41 abnormality of the rib cage 33 HP:0001547

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Growth Weight:
obesity

Head And Neck Mouth:
high-arched palate

Respiratory Lung:
recurrent upper respiratory infections

Head And Neck Ears:
low-set ears

Genitourinary External Genitalia Male:
inguinal hernia

Neurologic Central Nervous System:
mental retardation, severe

Skeletal Hands:
broad hands
short, distally tapering fingers

Clinical features from OMIM:

300209

MGI Mouse Phenotypes related to Simpson-Golabi-Behmel Syndrome, Type 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CEP290 LCA5 OFD1 PIGA RPGR
2 pigmentation MP:0001186 8.8 CEP290 LCA5 RPGR

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome, Type 2

Search Clinical Trials , NIH Clinical Center for Simpson-Golabi-Behmel Syndrome, Type 2

Genetic Tests for Simpson-Golabi-Behmel Syndrome, Type 2

Genetic tests related to Simpson-Golabi-Behmel Syndrome, Type 2:

# Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome, Type 2 30 OFD1

Anatomical Context for Simpson-Golabi-Behmel Syndrome, Type 2

MalaCards organs/tissues related to Simpson-Golabi-Behmel Syndrome, Type 2:

42
Skin, Kidney, Bone

Publications for Simpson-Golabi-Behmel Syndrome, Type 2

Articles related to Simpson-Golabi-Behmel Syndrome, Type 2:

# Title Authors Year
1
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. ( 26545172 )
2016
2
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. ( 16783569 )
2006

Variations for Simpson-Golabi-Behmel Syndrome, Type 2

ClinVar genetic disease variations for Simpson-Golabi-Behmel Syndrome, Type 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh38 Chromosome X, 13760583: 13760586
2 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh37 Chromosome X, 13778702: 13778705
3 OFD1 NM_003611.2(OFD1): c.324G> A (p.Met108Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 13756976: 13756976
4 OFD1 NM_003611.2(OFD1): c.324G> A (p.Met108Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 13738857: 13738857
5 OFD1 NM_003611.2(OFD1): c.892G> A (p.Gly298Arg) single nucleotide variant Uncertain significance rs778349684 GRCh37 Chromosome X, 13767609: 13767609
6 OFD1 NM_003611.2(OFD1): c.892G> A (p.Gly298Arg) single nucleotide variant Uncertain significance rs778349684 GRCh38 Chromosome X, 13749490: 13749490

Expression for Simpson-Golabi-Behmel Syndrome, Type 2

Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome, Type 2.

Pathways for Simpson-Golabi-Behmel Syndrome, Type 2

GO Terms for Simpson-Golabi-Behmel Syndrome, Type 2

Cellular components related to Simpson-Golabi-Behmel Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.67 CEP290 LCA5 OFD1 RPGR
2 centrosome GO:0005813 9.58 CEP290 OFD1 RPGR
3 cell projection GO:0042995 9.56 CEP290 LCA5 OFD1 RPGR
4 centriole GO:0005814 9.43 CEP290 OFD1
5 ciliary basal body GO:0036064 9.33 CEP290 OFD1 RPGR
6 centriolar satellite GO:0034451 9.32 CEP290 OFD1
7 microtubule organizing center GO:0005815 9.26 CEP290 LCA5 OFD1 RPGR
8 cilium GO:0005929 8.92 CEP290 LCA5 OFD1 RPGR

Biological processes related to Simpson-Golabi-Behmel Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.37 CEP290 OFD1
2 ciliary basal body-plasma membrane docking GO:0097711 9.32 CEP290 OFD1
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.26 CEP290 OFD1
4 intraciliary transport GO:0042073 9.16 LCA5 RPGR
5 cilium assembly GO:0060271 9.13 OFD1 RPGR CEP290
6 cell projection organization GO:0030030 8.8 RPGR CEP290 OFD1

Sources for Simpson-Golabi-Behmel Syndrome, Type 2

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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