MCID: SMP005
MIFTS: 32

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 54 24 29 13 69
Sgbs2 24 56 71
Lethal Variant of Simpson-Golabi-Behmel Syndrome 56
Simpson-Golabi-Behmel Syndrome Type 2 56
Simpson-Golabi-Behmel Syndrome 2 71

Characteristics:

Orphanet epidemiological data:

56
simpson-golabi-behmel syndrome type 2
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

54
Miscellaneous:
severe phenotype
death often in infancy
see also simpson-golabi-behmel syndrome 1 (sgbs1, )
allelic disorder to orofaciodigital syndrome 1 (ofd1, )
a mutation in the cxorf5 gene has been reported in 1 affected family

Inheritance:
x-linked recessive


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 : 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 ofd1-related simpson-golabi-behmel syndrome type 2 and piga-related simpson-golabi-behmel syndrome type 2, and has symptoms including wide mouth, intellectual disability, severe 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 kidney, skin and lung, and related phenotypes are craniofacial and digestive/alimentary

Description 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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
large mouth
cleft palate
thin upper lip
carp-shaped mouth

Head And Neck- Face:
coarse facies
prominent philtrum

Head And Neck- Ears:
low-set ears
posteriorly angulated ears
abnormal pinnae

Skeletal- Feet:
club feet

Chest- Breasts:
widely spaced nipples

Head And Neck- Head:
macrocephaly
scaphocephaly

Respiratory- Lung:
pneumonia
recurrent upper respiratory infections
trilobate left lung

Genitourinary- External Genitalia Male:
small penis
inguinal hernias

Genitourinary- Kidneys:
multicystic kidneys

Chest- External Features:
shield shaped chest

Neurologic- Central Nervous System:
hypotonia
mental retardation, severe
brisk deep tendon reflexes

Skin Nails & Hair- Nails:
hypoplastic nails

Head And Neck- Eyes:
epicanthal folds
hypertelorism

Head And Neck- Nose:
anteverted nares
short, broad nose

Head And Neck- Neck:
short neck
nuchal skin folds

Skeletal- Hands:
clinodactyly
transverse palmar creases
broad hands
short, distally tapering fingers

Skeletal- Pelvis:
congenital hip dislocation

Skin Nails & Hair- Skin:
transverse palmar creases
facial capillary hemangioma

Cardiovascular- Vascular:
facial capillary hemangioma

Skeletal- Limbs:
decreased extension of shoulder, elbow, knee, and ankles
axillary webbing


Clinical features from OMIM:

300209

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

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

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

44
id 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:

id Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome, Type 2 29 24

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

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

39
Kidney, Skin, Lung

Publications for Simpson-Golabi-Behmel Syndrome, Type 2

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

id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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