SGBS2
MCID: SMP005
MIFTS: 36

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 57 29 13 6 73
Simpson-Golabi-Behmel Syndrome Type 2 12 15
Sgbs2 57 75
Syndrome, Simpson-Golabi-Behmel, Type 2 40
Simpson-Golabi-Behmel Syndrome 2 75

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:



Summaries for Simpson-Golabi-Behmel Syndrome, Type 2

UniProtKB/Swiss-Prot : 75 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

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 all 12)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome 30.7 OFD1 PIGA
2 simpson-golabi-behmel syndrome, type 1 11.6
3 yemenite deaf-blind hypopigmentation syndrome 9.8 CEP290 RPGR
4 meckel syndrome, type 1 9.8 CEP290 OFD1
5 senior-loken syndrome 1 9.8 CEP290 RPGR
6 retinal disease 9.8 CEP290 RPGR
7 orofaciodigital syndrome i 9.7 CEP290 OFD1 RPGR
8 nephronophthisis 9.7 CEP290 RPGR
9 fundus dystrophy 9.6 CEP290 LCA5 RPGR
10 leber congenital amaurosis 9.6 CEP290 LCA5 RPGR
11 joubert syndrome 1 9.5 CEP290 LCA5 OFD1 RPGR
12 retinitis pigmentosa 9.5 CEP290 LCA5 OFD1 RPGR

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

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

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

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

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, 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 )
2015

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 GRCh37 Chromosome X, 13778702: 13778705
2 OFD1 NM_003611.2(OFD1): c.2123_2126dupAAGA (p.Asn711Lysfs) duplication Pathogenic rs312262890 GRCh38 Chromosome X, 13760583: 13760586

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 CEP290 OFD1 RPGR
6 cell projection organization GO:0030030 8.8 CEP290 OFD1 RPGR

Sources for Simpson-Golabi-Behmel Syndrome, Type 2

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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