SGBS2
MCID: SMP005
MIFTS: 40

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

Categories: Bone diseases, Fetal diseases, Genetic 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 57 29 13 6 71
Simpson-Golabi-Behmel Syndrome Type 2 12 15
Sgbs2 57 73
Syndrome, Simpson-Golabi-Behmel, Type 2 39
Simpson-Golabi-Behmel Syndrome 2 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive

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


HPO:

31
simpson-golabi-behmel syndrome, type 2:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Simpson-Golabi-Behmel Syndrome, Type 2

OMIM® : 57 Simpson-Golabi-Behmel syndrome type 2 (SGBS2) is an X-linked recessive disorder in which affected males have severely impaired intellectual development, ciliary dyskinesia, and macrocephaly (summary by Budny et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Simpson-Golabi-Behmel syndrome, see 312870. (300209) (Updated 05-Mar-2021)

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 multiple congenital anomalies-hypotonia-seizures syndrome 2. An important gene associated with Simpson-Golabi-Behmel Syndrome, Type 2 is OFD1 (OFD1 Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include kidney, and related phenotypes are macrocephaly and high palate

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

UniProtKB/Swiss-Prot : 73 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.

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

Diseases in the Simpson-Golabi-Behmel Syndrome family:

Simpson-Golabi-Behmel Syndrome, Type 2 Simpson-Golabi-Behmel Syndrome, Type 1

Diseases related to Simpson-Golabi-Behmel Syndrome, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome 30.9 PIGA OFD1
2 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.3
3 simpson-golabi-behmel syndrome, type 1 10.3
4 alacrima, achalasia, and mental retardation syndrome 10.3
5 hemosiderosis 10.3
6 gingival overgrowth 10.3
7 encephalopathy 10.3
8 hypotonia 10.3
9 rare hereditary hemochromatosis 10.3
10 ferro-cerebro-cutaneous syndrome 10.3
11 overgrowth syndrome 10.3
12 joubert syndrome 10 10.2 OFD1 LCA5
13 joubert syndrome 2 10.2 OFD1 CEP290
14 joubert syndrome 13 10.2 OFD1 CEP290
15 joubert syndrome 8 10.2 OFD1 CEP290
16 leber congenital amaurosis 6 10.1 LCA5 CEP290
17 retinitis pigmentosa 28 10.1 OFD1 LCA5
18 joubert syndrome 5 10.1 OFD1 CEP290
19 leber congenital amaurosis 9 10.1 LCA5 CEP290
20 leber congenital amaurosis 8 10.1 LCA5 CEP290
21 leber congenital amaurosis 1 10.1 LCA5 CEP290
22 leber congenital amaurosis 10 10.1 LCA5 CEP290
23 leber congenital amaurosis 3 10.1 LCA5 CEP290
24 leber congenital amaurosis 4 10.1 LCA5 CEP290
25 joubert syndrome 24 10.1 IFT88 CEP290
26 joubert syndrome 4 10.1 OFD1 CEP290
27 retinal aplasia 10.0 SDCCAG8 CEP290
28 nephronophthisis 11 10.0 SDCCAG8 CEP290
29 nephronophthisis 7 10.0 SDCCAG8 CEP290
30 leber congenital amaurosis 2 10.0 LCA5 CEP290
31 nephronophthisis 16 10.0 SDCCAG8 CEP290
32 joubert syndrome 3 10.0 OFD1 CEP290
33 orofaciodigital syndrome vi 9.9 TCEANC OFD1 CEP290
34 orofaciodigital syndrome i 9.9 OFD1 IFT88 CEP290
35 orofaciodigital syndrome 9.9 OFD1 IFT88 CEP290
36 nephronophthisis 12 9.9 SDCCAG8 CEP290
37 meckel syndrome, type 3 9.9 OFD1 IFT88 CEP290
38 nephronophthisis 9 9.9 SDCCAG8 CEP290
39 cranioectodermal dysplasia 9.9 OFD1 IFT88 CEP290
40 ellis-van creveld syndrome 9.9 OFD1 IFT88 CEP290
41 bardet-biedl syndrome 4 9.9 OFD1 BBS4
42 bardet-biedl syndrome 13 9.9 CEP290 BBS4
43 renal-hepatic-pancreatic dysplasia 9.9 SDCCAG8 OFD1 CEP290
44 coach syndrome 1 9.9 SDCCAG8 OFD1 CEP290
45 ciliopathy 9.8 SDCCAG8 CEP290
46 ciliary dyskinesia, primary, 9 9.8 IFT88 BBS4
47 alstrom syndrome 9.8 CEP290 BBS4
48 bardet-biedl syndrome 8 9.6 IFT88 CEP290 BBS4
49 bardet-biedl syndrome 3 9.6 IFT88 CEP290 BBS4
50 usher syndrome 9.6 LCA5 IFT88 CEP290

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:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 high palate 31 HP:0000218
3 short neck 31 HP:0000470
4 coarse facial features 31 HP:0000280
5 inguinal hernia 31 HP:0000023
6 hypertelorism 31 HP:0000316
7 short nose 31 HP:0003196
8 anteverted nares 31 HP:0000463
9 intellectual disability, severe 31 HP:0010864
10 recurrent upper respiratory tract infections 31 HP:0002788
11 cleft palate 31 HP:0000175
12 wide intermamillary distance 31 HP:0006610
13 low-set ears 31 HP:0000369
14 thickened nuchal skin fold 31 HP:0000474
15 obesity 31 HP:0001513
16 epicanthus 31 HP:0000286
17 congenital hip dislocation 31 HP:0001374
18 talipes equinovarus 31 HP:0001762
19 wide mouth 31 HP:0000154
20 intellectual disability, progressive 31 HP:0006887
21 dolichocephaly 31 HP:0000268
22 micropenis 31 HP:0000054
23 thin upper lip vermilion 31 HP:0000219
24 deep philtrum 31 HP:0002002
25 short finger 31 HP:0009381
26 multicystic kidney dysplasia 31 HP:0000003
27 wide nose 31 HP:0000445
28 tapered finger 31 HP:0001182
29 single transverse palmar crease 31 HP:0000954
30 broad palm 31 HP:0001169
31 posteriorly rotated ears 31 HP:0000358
32 pneumonia 31 HP:0002090
33 hyperactive deep tendon reflexes 31 HP:0006801
34 generalized hypotonia 31 HP:0001290
35 u-shaped upper lip vermilion 31 HP:0010806
36 small nail 31 HP:0001792
37 radial deviation of finger 31 HP:0009466
38 clinodactyly 31 HP:0030084
39 facial capillary hemangioma 31 HP:0000996
40 scaphocephaly 31 HP:0030799
41 hypotonia 31 HP:0001252
42 abnormal rib cage morphology 31 HP:0001547

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears

Head And Neck Mouth:
high-arched palate

Respiratory Lung:
recurrent upper respiratory infections

Genitourinary External Genitalia Male:
inguinal hernia

Growth Weight:
obesity

Neurologic Central Nervous System:
mental retardation, severe

Skeletal Hands:
broad hands
short, distally tapering fingers

Clinical features from OMIM®:

300209 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.73 BBS4 CEP290 IFT88 OFD1 PIGA SDCCAG8
2 digestive/alimentary MP:0005381 9.55 BBS4 IFT88 OFD1 PIGA SDCCAG8
3 nervous system MP:0003631 9.5 BBS4 CEP290 IFT88 LCA5 OFD1 PIGA
4 renal/urinary system MP:0005367 9.02 BBS4 CEP290 IFT88 OFD1 SDCCAG8

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 29 OFD1

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

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

40
Kidney

Publications for Simpson-Golabi-Behmel Syndrome, Type 2

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

# Title Authors PMID Year
1
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. 57 6
16783569 2006
2
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. 61
31366608 2019
3
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. 61
31373179 2019
4
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. 61
26545172 2016
5
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. 61
22548404 2013
6
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. 61
23033313 2013
7
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). 61
22619378 2012
8
Regional selection acting on the OFD1 gene family. 61
22022562 2011
9
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 61
19800048 2009

Variations for Simpson-Golabi-Behmel Syndrome, Type 2

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OFD1 NM_003611.3(OFD1):c.400_403del (p.Glu134fs) Deletion Pathogenic 41117 rs312262830 X:13757136-13757139 X:13739017-13739020
2 OFD1 NM_003611.3(OFD1):c.1412-322G>A SNV Pathogenic 929433 X:13775457-13775457 X:13757338-13757338
3 OFD1 NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) Duplication Pathogenic 11543 rs312262890 X:13778701-13778702 X:13760582-13760583
4 OFD1 NM_003611.3(OFD1):c.2464GAG[1] (p.Glu823del) Microsatellite Uncertain significance 992902 X:13780539-13780541 X:13762420-13762422
5 OFD1 NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) Deletion Uncertain significance 689774 rs1602826132 X:13764522-13764527 X:13746403-13746408
6 OFD1 NM_003611.3(OFD1):c.324G>A (p.Met108Ile) SNV Uncertain significance 571289 rs763219658 X:13756976-13756976 X:13738857-13738857
7 OFD1 NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) SNV Uncertain significance 532267 rs778349684 X:13767609-13767609 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 SDCCAG8 OFD1 IFT88 CEP290 BBS4

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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.91 SDCCAG8 OFD1 LCA5 IFT88 CEP290 BBS4
2 cell projection GO:0042995 9.88 SDCCAG8 OFD1 LCA5 IFT88 CEP290 BBS4
3 centrosome GO:0005813 9.77 SDCCAG8 OFD1 IFT88 CEP290 BBS4
4 cilium GO:0005929 9.72 OFD1 LCA5 IFT88 CEP290 BBS4
5 motile cilium GO:0031514 9.63 OFD1 IFT88 BBS4
6 microtubule organizing center GO:0005815 9.63 SDCCAG8 OFD1 LCA5 IFT88 CEP290 BBS4
7 centriolar satellite GO:0034451 9.56 SDCCAG8 OFD1 CEP290 BBS4
8 photoreceptor connecting cilium GO:0032391 9.51 LCA5 CEP290
9 ciliary transition zone GO:0035869 9.49 CEP290 BBS4
10 non-motile cilium GO:0097730 9.48 IFT88 BBS4
11 centriole GO:0005814 9.35 SDCCAG8 OFD1 IFT88 CEP290 BBS4
12 ciliary basal body GO:0036064 9.1 SDCCAG8 OFD1 LCA5 IFT88 CEP290 BBS4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.67 RAB9A LCA5 CEP290 BBS4
2 G2/M transition of mitotic cell cycle GO:0000086 9.5 SDCCAG8 OFD1 CEP290
3 non-motile cilium assembly GO:1905515 9.49 IFT88 BBS4
4 regulation of cilium assembly GO:1902017 9.48 SDCCAG8 IFT88
5 photoreceptor cell maintenance GO:0045494 9.46 LCA5 BBS4
6 centrosome cycle GO:0007098 9.43 SDCCAG8 BBS4
7 ciliary basal body-plasma membrane docking GO:0097711 9.43 SDCCAG8 OFD1 CEP290
8 intraciliary transport GO:0042073 9.4 LCA5 IFT88
9 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.33 SDCCAG8 OFD1 CEP290
10 cilium assembly GO:0060271 9.26 OFD1 IFT88 CEP290 BBS4
11 cell projection organization GO:0030030 9.02 SDCCAG8 OFD1 IFT88 CEP290 BBS4

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

# Name GO ID Score Top Affiliating Genes
1 alpha-tubulin binding GO:0043014 8.62 OFD1 BBS4

Sources for Simpson-Golabi-Behmel Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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