MCID: SMP005
MIFTS: 28

Simpson-Golabi-Behmel Syndrome, Type 2

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Nephrological diseases, Mental 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
Sgbs2 57 59 75
Lethal Variant of Simpson-Golabi-Behmel Syndrome 59
Syndrome, Simpson-Golabi-Behmel, Type 2 40
Simpson-Golabi-Behmel Syndrome Type 2 59
Simpson-Golabi-Behmel Syndrome 2 75

Characteristics:

Orphanet epidemiological data:

59
simpson-golabi-behmel syndrome type 2
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

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 sgbs2, 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

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:

# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome 29.0 OFD1 PIGA
2 simpson-golabi-behmel syndrome, type 1 11.5

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 intellectual disability, progressive 32 HP:0006887
20 wide mouth 32 HP:0000154
21 small nail 32 HP:0001792
22 multicystic kidney dysplasia 32 HP:0000003
23 talipes equinovarus 32 HP:0001762
24 thin upper lip vermilion 32 HP:0000219
25 deep philtrum 32 HP:0002002
26 short finger 32 HP:0009381
27 wide nose 32 HP:0000445
28 tapered finger 32 HP:0001182
29 pneumonia 32 HP:0002090
30 micropenis 32 HP:0000054
31 single transverse palmar crease 32 HP:0000954
32 broad palm 32 HP:0001169
33 congenital hip dislocation 32 HP:0001374
34 generalized hypotonia 32 HP:0001290
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 craniofacial MP:0005382 8.96 OFD1 PIGA
2 digestive/alimentary MP:0005381 8.62 OFD1 PIGA

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 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

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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