MCID: SHP002
MIFTS: 54

Shprintzen-Goldberg Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Shprintzen-Goldberg Syndrome

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Aliases & Descriptions for Shprintzen-Goldberg Syndrome:

Name: Shprintzen-Goldberg Syndrome 49 11 21 45 22 23 51
Shprintzen-Goldberg Craniosynostosis Syndrome 21 45 22 23 67
Marfanoid Craniosynostosis Syndrome 45 22 51 67
Goldberg-Shprintzen Megacolon Syndrome 10 36 65
Shprintzen-Goldberg Marfanoid Syndrome 21 45 22
Marfanoid-Craniosynostosis Syndrome 21 45 23
 
Goldberg-Shprintzen Syndrome 10 12 24
Craniosynostosis with Arachnodactyly and Abdominal Hernias 45 67
Sgs 51 67
Marfanoid Disorder with Craniosynostosis Type 1 45
Marfanoid Disorder with Craniosynostosis Type I 67

Characteristics:

Orphanet epidemiological data:

51
shprintzen-goldberg syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
shprintzen-goldberg syndrome:
Inheritance: sporadic, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 182212
Disease Ontology10 DOID:0060481
ICD1027 Q87.8
Orphanet51 2462
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C537328
UMLS via Orphanet66 C1321551
MedGen34 C1321551
UMLS65 C1836123

Summaries for Shprintzen-Goldberg Syndrome

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OMIM:49 Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic,... (182212) more...

MalaCards based summary: Shprintzen-Goldberg Syndrome, also known as shprintzen-goldberg craniosynostosis syndrome, is related to goldberg-shprintzen megacolon syndrome and schinzel giedion syndrome, and has symptoms including cognitive impairment, pes planus and disproportionate tall stature. An important gene associated with Shprintzen-Goldberg Syndrome is SKI (SKI Proto-Oncogene), and among its related pathways are SMAD Signaling Network and TGF-beta Receptor Signaling Pathway. Affiliated tissues include skin, bone and skeletal muscle, and related mouse phenotypes are pigmentation and limbs/digits/tail.

UniProtKB/Swiss-Prot:67 Shprintzen-Goldberg craniosynostosis syndrome: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.

Genetics Home Reference:23 Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities.

GeneReviews summary for NBK1277

Related Diseases for Shprintzen-Goldberg Syndrome

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Diseases related to Shprintzen-Goldberg Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1goldberg-shprintzen megacolon syndrome12.9
2schinzel giedion syndrome11.3
3genetic prion diseases10.6FBN1, TGFB1
4secondary corneal edema10.4FBN1, TGFB1
5blepharophimosis-intellectual disability syndrome, sbbys type10.3KAT6B, MED12
6craniosynostosis10.3
7aortic aneurysm10.3
8aneurysm10.3
9megacolon10.3
10axonal neuropathy10.3
11neuropathy10.3
12conjunctival intraepithelial neoplasm10.3EDN3, EDNRB
13tetralogy of fallot10.2
14hydrocephalus10.2
15scoliosis10.2
16umbilical hernia10.2
17solitary cyst of breast10.1KAT6B, MED12
18spina bifida occulta9.9EDNRB, RET
19insulinoma9.9
20crimean-congo hemorrhagic fever9.9
21hemoglobinopathy9.9
22hemorrhagic fever9.9
23endotheliitis9.9
24labyrinthine unilateral reactive loss9.7EDNRB, RET
25lynch syndrome9.6EDN3, RET
26pyloric stenosis9.6GDNF, RET
27parametritis9.6GDNF, RET
28diabetes mellitus, noninsulin-dependent, 59.5EDN3, EDNRB, RET
29nasopharynx carcinoma9.5EDN3, EDNRB, RET
30preretinal fibrosis9.5GDNF, RET, TGFB1
31central hypoventilation syndrome, congenital9.4EDNRB, GDNF, RET
32multiple endocrine neoplasia iib9.3GDNF, RET
33pheochromocytoma9.2ASCL1, GDNF, RET
34heritable pulmonary arterial hypertension9.2GDNF, RET
35medullary thyroid carcinoma, familial9.0ASCL1, EDNRB, GDNF, RET
36afferent loop syndrome9.0EDN3, EDNRB, GDNF, RET
37anal spasm8.7EDN3, EDNRB, GDNF, KIF1BP, RET
38focal epithelial hyperplasia8.5ASCL1, EDN3, EDNRB, GDNF, RET
39hirschsprung disease 18.5ASCL1, EDN3, EDNRB, GDNF, RET
40chronic infections, due to mbl deficiency8.2ASCL1, EDN3, EDNRB, GDNF, KIF1BP, RET
41shprintzen-goldberg syndrome5.7ASCL1, EDN3, EDNRB, FBN1, GDNF, KAT6B

Graphical network of the top 20 diseases related to Shprintzen-Goldberg Syndrome:



Diseases related to shprintzen-goldberg syndrome

Symptoms for Shprintzen-Goldberg Syndrome

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Symptoms by clinical synopsis from OMIM:

182212

Clinical features from OMIM:

182212

Symptoms:

 51 (show all 55)
  • dolichocephaly/scaphocephaly
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • telecanthus/canthal dystopy
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • long hand/arachnodactyly
  • flat foot
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • marfanoid morphotype
  • craniostenosis/craniosynostosis/sutural synostosis
  • frontal bossing/prominent forehead
  • high forehead
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • strabismus/squint
  • ptosis
  • pectus carinatum
  • pectus excavatum
  • scoliosis
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • camptodactyly of some fingers
  • talipes-varus/metatarsal varus
  • flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • communicating hydrocephaly
  • hyperextensible joints/articular hyperlaxity
  • microcephaly
  • large fontanelle/delayed fontanelle closure
  • myopia
  • anteverted nares/nostrils
  • prominent/bat ears
  • conductive deafness/hearing loss
  • narrow rib cage/thorax
  • rib number anomalies
  • abnormal vertebral size/shape
  • absent/hypotonic/flaccid abdominal wall muscles
  • genu valgum
  • hyperelastic skin/cutaneous hyperlaxity
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • apnea/sleep apnea
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dilated cerebral ventricles without hydrocephaly
  • arnold-chiari anomaly
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • metaphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • restricted joint mobility/joint stiffness/ankylosis
  • elbow dislocation
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Shprintzen-Goldberg Syndrome:

(show all 102)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 pes planus hallmark (90%) HP:0001763
3 disproportionate tall stature hallmark (90%) HP:0001519
4 muscular hypotonia hallmark (90%) HP:0001252
5 arachnodactyly hallmark (90%) HP:0001166
6 proptosis hallmark (90%) HP:0000520
7 telecanthus hallmark (90%) HP:0000506
8 downslanted palpebral fissures hallmark (90%) HP:0000494
9 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
10 micrognathia hallmark (90%) HP:0000347
11 hypertelorism hallmark (90%) HP:0000316
12 dolichocephaly hallmark (90%) HP:0000268
13 high palate 81.0811% HP:0000218
14 inguinal hernia 51.3514% HP:0000023
15 camptodactyly of finger typical (50%) HP:0100490
16 scoliosis typical (50%) HP:0002650
17 frontal bossing typical (50%) HP:0002007
18 talipes typical (50%) HP:0001883
19 camptodactyly of toe typical (50%) HP:0001836
20 abnormality of the aortic valve typical (50%) HP:0001646
21 abnormality of the mitral valve typical (50%) HP:0001633
22 umbilical hernia typical (50%) HP:0001537
23 joint hypermobility typical (50%) HP:0001382
24 craniosynostosis typical (50%) HP:0001363
25 communicating hydrocephalus typical (50%) HP:0001334
26 pectus carinatum typical (50%) HP:0000768
27 pectus excavatum typical (50%) HP:0000767
28 ptosis typical (50%) HP:0000508
29 strabismus typical (50%) HP:0000486
30 high forehead typical (50%) HP:0000348
31 cryptorchidism 10.8108% HP:0000028
32 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
33 reduced bone mineral density occasional (7.5%) HP:0004349
34 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
35 elbow dislocation occasional (7.5%) HP:0003042
36 genu valgum occasional (7.5%) HP:0002857
37 arnold-chiari malformation occasional (7.5%) HP:0002308
38 ventriculomegaly occasional (7.5%) HP:0002119
39 apnea occasional (7.5%) HP:0002104
40 limitation of joint mobility occasional (7.5%) HP:0001376
41 hyperextensible skin occasional (7.5%) HP:0000974
42 abnormality of the metaphyses occasional (7.5%) HP:0000944
43 narrow chest occasional (7.5%) HP:0000774
44 abnormality of the ribs occasional (7.5%) HP:0000772
45 myopia occasional (7.5%) HP:0000545
46 anteverted nares occasional (7.5%) HP:0000463
47 conductive hearing impairment occasional (7.5%) HP:0000405
48 abnormality of the pinna occasional (7.5%) HP:0000377
49 microcephaly occasional (7.5%) HP:0000252
50 cryptorchidism occasional (7.5%) HP:0000028
51 genu valgum rare (5%) HP:0002857
52 joint contracture of the hand HP:0009473
53 abdominal wall muscle weakness HP:0009023
54 feeding difficulties in infancy HP:0008872
55 c1-c2 vertebral abnormality HP:0008440
56 arnold-chiari type i malformation HP:0007099
57 supernumerary ribs HP:0005815
58 minimal subcutaneous fat HP:0003717
59 dislocated radial head HP:0003083
60 metaphyseal widening HP:0003016
61 obstructive sleep apnea HP:0002870
62 genu recurvatum HP:0002816
63 scoliosis HP:0002650
64 gastroesophageal reflux HP:0002020
65 frontal bossing HP:0002007
66 metatarsus adductus HP:0001840
67 pes planus HP:0001763
68 talipes equinovarus HP:0001762
69 aortic dilatation HP:0001724
70 mitral valve prolapse HP:0001634
71 umbilical hernia HP:0001537
72 joint laxity HP:0001388
73 craniosynostosis HP:0001363
74 global developmental delay HP:0001263
75 muscular hypotonia HP:0001252
76 intellectual disability HP:0001249
77 arachnodactyly HP:0001166
78 hyperextensible skin HP:0000974
79 osteopenia HP:0000938
80 lateral clavicle hook HP:0000895
81 thin ribs HP:0000883
82 pectus carinatum HP:0000768
83 pectus excavatum HP:0000767
84 dental malocclusion HP:0000689
85 shallow orbits HP:0000586
86 myopia HP:0000545
87 ptosis HP:0000508
88 telecanthus HP:0000506
89 downslanted palpebral fissures HP:0000494
90 strabismus HP:0000486
91 anteverted nares HP:0000463
92 conductive hearing impairment HP:0000405
93 abnormality of the pinna HP:0000377
94 low-set, posteriorly rotated ears HP:0000368
95 micrognathia HP:0000347
96 hypoplasia of the maxilla HP:0000327
97 hypertelorism HP:0000316
98 dolichocephaly HP:0000268
99 wide anterior fontanel HP:0000260
100 microcephaly HP:0000252
101 hydrocephalus HP:0000238
102 narrow palate HP:0000189

Drugs & Therapeutics for Shprintzen-Goldberg Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165

Search NIH Clinical Center for Shprintzen-Goldberg Syndrome


Cochrane evidence based reviews: goldberg-shprintzen megacolon syndrome

Genetic Tests for Shprintzen-Goldberg Syndrome

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Genetic tests related to Shprintzen-Goldberg Syndrome:

id Genetic test Affiliating Genes
1 Shprintzen-Goldberg Syndrome22 SKI

Anatomical Context for Shprintzen-Goldberg Syndrome

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MalaCards organs/tissues related to Shprintzen-Goldberg Syndrome:

33
Skin, Bone, Skeletal muscle, Testes, Thyroid, Breast, Ovary

Animal Models for Shprintzen-Goldberg Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3ASCL1, EDN3, EDNRB, FBN1
2MP:00053718.8EDNRB, FBN1, MED12, RET, SKI
3MP:00053828.5ASCL1, EDNRB, FBN1, MED12, SKI, TGFB1
4MP:00053808.0EDN3, EDNRB, FBN1, MED12, RET, SKI
5MP:00053698.0EDNRB, FBN1, GDNF, RET, SKI, TGFB1
6MP:00053797.8ASCL1, EDNRB, FBN1, GDNF, KIF18A, RET
7MP:00053857.3EDNRB, FBN1, GDNF, KIF1BP, MED12, RET
8MP:00053867.1ASCL1, EDN3, EDNRB, FBN1, GDNF, KIF1A
9MP:00053847.0ASCL1, EDNRB, FBN1, GDNF, KIF18A, MED12
10MP:00036316.4ASCL1, EDN3, EDNRB, FBN1, GDNF, KIF1A
11MP:00053786.4ASCL1, EDNRB, FBN1, GDNF, KIF1A, MED12
12MP:00107685.5ASCL1, EDN3, EDNRB, FBN1, GDNF, KIF18A

Publications for Shprintzen-Goldberg Syndrome

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Articles related to Shprintzen-Goldberg Syndrome:

(show all 29)
idTitleAuthorsYear
1
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. (24736733)
2014
2
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. (24611072)
2014
3
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. (24397373)
2014
4
Double-valve surgery in Shprintzen-Goldberg syndrome. (24887819)
2014
5
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review. (24357594)
2013
6
Aberrant TGF-I^ signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. (23330586)
2013
7
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? (22653535)
2012
8
Germline mosacism in Shprintzen-Goldberg syndrome. (22639450)
2012
9
Mutations in the TGF-I^ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (23023332)
2012
10
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (23103230)
2012
11
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. (21307714)
2011
12
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. (17979970)
2008
13
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. (17303258)
2007
14
Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature. (16970241)
2006
15
Molecular pathology of Shprintzen-Goldberg syndrome. (16333834)
2006
16
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. (15884042)
2005
17
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. (15840802)
2005
18
Shprintzen-Goldberg syndrome: case report. (12846610)
2003
19
Shprintzen-Goldberg syndrome: a clinical analysis. (9508238)
1998
20
Shprintzen-Goldberg syndrome. A case report. (9524609)
1997
21
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. (9338588)
1997
22
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. (9130129)
1997
23
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. (9255212)
1997
24
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (9182791)
1997
25
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (8563763)
1996
26
Radiographic findings in Shprintzen-Goldberg syndrome. (8929375)
1996
27
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (7573130)
1995
28
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. (7573131)
1995
29
Shprintzen-Goldberg Syndrome (20301454)
1993

Variations for Shprintzen-Goldberg Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Shprintzen-Goldberg Syndrome:

67 (show all 14)
id Symbol AA change Variation ID SNP ID
1SKIp.Leu21ArgVAR_071170
2SKIp.Ser31LeuVAR_071171
3SKIp.Leu32ProVAR_071172
4SKIp.Leu32ValVAR_071173
5SKIp.Gly34CysVAR_071174
6SKIp.Gly34AspVAR_071175
7SKIp.Gly34SerVAR_071176
8SKIp.Gly34ValVAR_071177
9SKIp.Pro35GlnVAR_071178
10SKIp.Pro35SerVAR_071179
11SKIp.Gly116GluVAR_071182
12SKIp.Gly117ArgVAR_071183
13SKIp.Ser28ThrVAR_071659
14SKIp.Gly34AlaVAR_071660

Clinvar genetic disease variations for Shprintzen-Goldberg Syndrome:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1KIF1BPNM_015634.3(KIF1BP): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs121434514GRCh37Chr 10, 70748856: 70748856
2KIF1BPNM_015634.3(KIF1BP): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs121434515GRCh37Chr 10, 70748838: 70748838
3KIF1BPNM_015634.3(KIF1BP): c.599C> A (p.Ser200Ter)single nucleotide variantPathogenicrs730882150GRCh37Chr 10, 70764875: 70764875
4KIF1BPNM_015634.3(KIF1BP): c.604_605delAG (p.Arg202Ilefs)deletionPathogenicrs730882151GRCh37Chr 10, 70764880: 70764881
5KIF1BPNC_000010.11deletionPathogenicGRCh38Chr 10, 68989259: 69005731
6SKINM_003036.3(SKI): c.352G> A (p.Glu118Lys)single nucleotide variantLikely pathogenicrs869025525GRCh38Chr 1, 2229118: 2229118
7SKINM_003036.3(SKI): c.349G> C (p.Gly117Arg)single nucleotide variantPathogenicrs869312901GRCh37Chr 1, 2160554: 2160554
8SKINM_003036.3(SKI): c.62T> G (p.Leu21Arg)single nucleotide variantPathogenicrs869312902GRCh37Chr 1, 2160267: 2160267
9SKINM_003036.3(SKI): c.347G> A (p.Gly116Glu)single nucleotide variantPathogenicrs387907303GRCh37Chr 1, 2160552: 2160552
10SKINM_003036.3(SKI): c.94C> G (p.Leu32Val)single nucleotide variantPathogenicrs387907304GRCh37Chr 1, 2160299: 2160299
11SKINM_003036.3(SKI): c.101G> A (p.Gly34Asp)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
12SKINM_003036.3(SKI): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
13SKINM_003036.3(SKI): c.100G> T (p.Gly34Cys)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
14SKINM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del)deletionPathogenicrs398122889GRCh37Chr 1, 2160488: 2160496
15SKINM_003036.3(SKI): c.101G> T (p.Gly34Val)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
16SKINM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del)deletionPathogenicrs398122914GRCh37Chr 1, 2160485: 2160496
17SKINM_003036.3(SKI): c.104C> A (p.Pro35Gln)single nucleotide variantPathogenicrs397514589GRCh37Chr 1, 2160309: 2160309
18SKINM_003036.3(SKI): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs397514590GRCh37Chr 1, 2160308: 2160308

Expression for genes affiliated with Shprintzen-Goldberg Syndrome

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Search GEO for disease gene expression data for Shprintzen-Goldberg Syndrome.

Pathways for genes affiliated with Shprintzen-Goldberg Syndrome

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Pathways related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3GDNF, SKI, TGFB1
29.3GDNF, SKI, TGFB1
39.1ASCL1, GDNF, TGFB1

GO Terms for genes affiliated with Shprintzen-Goldberg Syndrome

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Biological processes related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1face morphogenesisGO:006032510.4SKI, TGFB1
2vein smooth muscle contractionGO:001482610.4EDN3, EDNRB
3vasoconstrictionGO:004231010.2EDN3, EDNRB
4positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.2GDNF, TGFB1
5peripheral nervous system developmentGO:000742210.1EDNRB, GDNF
6regulation of cell migrationGO:003033410.1EDN3, TGFB1
7posterior midgut developmentGO:000749710.1EDNRB, RET
8ureteric bud developmentGO:00016579.9GDNF, TGFB1
9oligodendrocyte developmentGO:00140039.7ASCL1, MED12, TGFB1
10positive regulation of cell differentiationGO:00455979.7EDN3, GDNF
11regulation of gene expressionGO:00104689.6ASCL1, EDN3, TGFB1
12neural crest cell migrationGO:00017559.3EDN3, EDNRB, RET
13nervous system developmentGO:00073999.1ASCL1, EDNRB, GDNF
14negative regulation of transcription from RNA polymerase II promoterGO:00001229.1ASCL1, EDNRB, SKI, TGFB1
15neuron differentiationGO:00301829.0ASCL1, EDN3, RET
16MAPK cascadeGO:00001658.9GDNF, RET, TGFB1
17positive regulation of transcription from RNA polymerase II promoterGO:00459448.1ASCL1, GDNF, KAT6B, MED12, SKI, TGFB1

Sources for Shprintzen-Goldberg Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet