SGBS2
MCID: SMP005
MIFTS: 34

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 72
Simpson-Golabi-Behmel Syndrome Type 2 12 15
Sgbs2 57 74
Syndrome, Simpson-Golabi-Behmel, Type 2 40
Simpson-Golabi-Behmel Syndrome 2 74

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
simpson-golabi-behmel syndrome, type 2:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080342
OMIM 57 300209
MeSH 44 D001848
MedGen 42 C1846175
UMLS 72 C1846175

Summaries for Simpson-Golabi-Behmel Syndrome, Type 2

UniProtKB/Swiss-Prot : 74 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 and kidney, 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.

More information 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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 29 OFD1

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

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

41
Skin, 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. 8 71
16783569 2006
2
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. 38
31373179 2019
3
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. 38
31366608 2019
4
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. 38
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. 38
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. 38
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). 38
22619378 2012
8
Regional selection acting on the OFD1 gene family. 38
22022562 2011
9
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 38
19800048 2009

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 GRCh37 Pos GRCh38 Pos
1 OFD1 NM_003611.3(OFD1): c.2126_2129dup (p.Asn711fs) duplication Pathogenic rs312262890 X:13778702-13778705 X:13760583-13760586
2 OFD1 NM_003611.3(OFD1): c.324G> A (p.Met108Ile) single nucleotide variant Uncertain significance X:13756976-13756976 X:13738857-13738857
3 OFD1 NM_003611.3(OFD1): c.892G> A (p.Gly298Arg) single nucleotide variant Uncertain significance 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

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 RPGR OFD1 LCA5 CEP290
2 centrosome GO:0005813 9.58 RPGR OFD1 CEP290
3 cell projection GO:0042995 9.56 RPGR OFD1 LCA5 CEP290
4 centriole GO:0005814 9.43 OFD1 CEP290
5 ciliary basal body GO:0036064 9.33 RPGR OFD1 CEP290
6 centriolar satellite GO:0034451 9.32 OFD1 CEP290
7 microtubule organizing center GO:0005815 9.26 RPGR OFD1 LCA5 CEP290
8 cilium GO:0005929 8.92 RPGR OFD1 LCA5 CEP290

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

Sources for Simpson-Golabi-Behmel Syndrome, Type 2

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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