MCID: SMP005
MIFTS: 28

Simpson-Golabi-Behmel Syndrome, Type 2

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Nephrological diseases, Fetal 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 53 28 13 69
Sgbs2 53 55 71
Lethal Variant of Simpson-Golabi-Behmel Syndrome 55
Simpson-Golabi-Behmel Syndrome Type 2 55
Simpson-Golabi-Behmel Syndrome 2 71

Characteristics:

Orphanet epidemiological data:

55
simpson-golabi-behmel syndrome type 2
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

53
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

UniProtKB/Swiss-Prot : 71 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, and has symptoms including macrocephaly, hypertelorism and low-set ears. 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 craniofacial and digestive/alimentary

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 29.5 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:

53
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:

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

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 OFD1 PIGA
2 digestive/alimentary MP:0005381 8.62 PIGA OFD1

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 28 OFD1

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

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

38
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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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