SGS
MCID: GLD002
MIFTS: 49

Goldberg-Shprintzen Megacolon Syndrome (SGS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Goldberg-Shprintzen Megacolon Syndrome

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OMIM:46 Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic,... (182212) more...

MalaCards based summary: Goldberg-Shprintzen Megacolon Syndrome, also known as goldberg-shprintzen syndrome, is related to shprintzen-goldberg syndrome and craniosynostosis, syndromic, and has symptoms including abnormality of the palate, dolichocephaly and hypertelorism. An important gene associated with Goldberg-Shprintzen Megacolon Syndrome is KIAA1279 (KIAA1279). The compounds vitamin d and tgf beta1 have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and skeletal muscle, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Genetics Home Reference:22 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.

NIH Rare Diseases:42 Goldberg-shprintzen megacolon syndrome is a very rare genetic condition characterized by hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. this condition has been described in about 15 individuals to date. some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. one of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. this condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the kiaa1279 gene. last updated: 3/6/2013

Description from OMIM:46 609460

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
22Genetics Home Reference, 46OMIM, 48Orphanet, 42NIH Rare Diseases, 21GeneTests, 23GTR, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Goldberg-Shprintzen Megacolon Syndrome, Aliases & Descriptions:

Name: Goldberg-Shprintzen Megacolon Syndrome 42 21 23 46 48 61
Goldberg-Shprintzen Syndrome 42 21 23
Shprintzen-Goldberg Syndrome 22 46 48
Goshs 42 48
Shprintzen-Goldberg Craniosynostosis Syndrome 22
 
Marfanoid-Craniosynostosis Syndrome 22
Marfanoid Craniosynostosis Syndrome 48
Megacolon - Microcephaly 48
Sgs 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
shprintzen-goldberg syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
goldberg-shprintzen megacolon syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

MESH via Orphanet35 C537328, C537279
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet62 C1321551, C1836123

Related Diseases for Goldberg-Shprintzen Megacolon Syndrome

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

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1shprintzen-goldberg syndrome11.1
2craniosynostosis, syndromic10.6
3craniosynostosis10.5
4microcephaly10.5
5aortic aneurysm10.5
6mowat-wilson syndrome10.5
7aneurysm10.5
8hydrocephalus10.3
9tetralogy of fallot10.3
10coloboma10.3
11neuronitis10.3
12hirschsprung's disease10.3
13cerebellar hypoplasia10.3
14pachygyria10.3
15mental retardation10.3
16hypotonia10.3
17omphalocele10.3
18schinzel giedion syndrome10.2
19insulinoma10.0
20crimean-congo hemorrhagic fever10.0
21hemoglobinopathy10.0
22hemorrhagic fever10.0
23endotheliitis10.0

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



Diseases related to goldberg-shprintzen megacolon syndrome

Symptoms for Goldberg-Shprintzen Megacolon Syndrome

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Symptoms by clinical synopsis from OMIM:

182212

Clinical features from OMIM:

182212,609460

Symptoms:

 48 (show all 71)
  • 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
  • microcephaly
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • 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
  • coloboma of iris
  • 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
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • sloping forehead
  • pointed chin
  • absent/decreased/thin eyebrows
  • broad nasal root
  • long/large ear
  • syndactyly of fingers/interdigital palm
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • hypospadias/epispadias/bent penis
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus

HPO human phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

(show all 151)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 dolichocephaly hallmark (90%) HP:0000268
3 hypertelorism hallmark (90%) HP:0000316
4 micrognathia hallmark (90%) HP:0000347
5 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
6 downslanted palpebral fissures hallmark (90%) HP:0000494
7 telecanthus hallmark (90%) HP:0000506
8 proptosis hallmark (90%) HP:0000520
9 arachnodactyly hallmark (90%) HP:0001166
10 muscular hypotonia hallmark (90%) HP:0001252
11 disproportionate tall stature hallmark (90%) HP:0001519
12 pes planus hallmark (90%) HP:0001763
13 cognitive impairment hallmark (90%) HP:0100543
14 cleft palate hallmark (90%) HP:0000175
15 microcephaly hallmark (90%) HP:0000252
16 aganglionic megacolon hallmark (90%) HP:0002251
17 short stature hallmark (90%) HP:0004322
18 high palate 81.0811% HP:0000218
19 inguinal hernia 51.3514% HP:0000023
20 high forehead typical (50%) HP:0000348
21 strabismus typical (50%) HP:0000486
22 ptosis typical (50%) HP:0000508
23 pectus excavatum typical (50%) HP:0000767
24 pectus carinatum typical (50%) HP:0000768
25 communicating hydrocephalus typical (50%) HP:0001334
26 craniosynostosis typical (50%) HP:0001363
27 joint hypermobility typical (50%) HP:0001382
28 umbilical hernia typical (50%) HP:0001537
29 abnormality of the mitral valve typical (50%) HP:0001633
30 abnormality of the aortic valve typical (50%) HP:0001646
31 camptodactyly of toe typical (50%) HP:0001836
32 talipes typical (50%) HP:0001883
33 frontal bossing typical (50%) HP:0002007
34 scoliosis typical (50%) HP:0002650
35 camptodactyly of finger typical (50%) HP:0100490
36 iris coloboma typical (50%) HP:0000612
37 muscular hypotonia typical (50%) HP:0001252
38 cryptorchidism 10.8108% HP:0000028
39 cryptorchidism occasional (7.5%) HP:0000028
40 microcephaly occasional (7.5%) HP:0000252
41 abnormality of the pinna occasional (7.5%) HP:0000377
42 conductive hearing impairment occasional (7.5%) HP:0000405
43 anteverted nares occasional (7.5%) HP:0000463
44 myopia occasional (7.5%) HP:0000545
45 abnormality of the ribs occasional (7.5%) HP:0000772
46 narrow chest occasional (7.5%) HP:0000774
47 abnormality of the metaphyses occasional (7.5%) HP:0000944
48 hyperextensible skin occasional (7.5%) HP:0000974
49 limitation of joint mobility occasional (7.5%) HP:0001376
50 apnea occasional (7.5%) HP:0002104
51 ventriculomegaly occasional (7.5%) HP:0002119
52 arnold-chiari malformation occasional (7.5%) HP:0002308
53 genu valgum occasional (7.5%) HP:0002857
54 elbow dislocation occasional (7.5%) HP:0003042
55 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
56 reduced bone mineral density occasional (7.5%) HP:0004349
57 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
58 pointed chin occasional (7.5%) HP:0000307
59 hypertelorism occasional (7.5%) HP:0000316
60 sloping forehead occasional (7.5%) HP:0000340
61 macrotia occasional (7.5%) HP:0000400
62 wide nasal bridge occasional (7.5%) HP:0000431
63 seizures occasional (7.5%) HP:0001250
64 cerebral cortical atrophy occasional (7.5%) HP:0002120
65 abnormality of neuronal migration occasional (7.5%) HP:0002269
66 finger syndactyly occasional (7.5%) HP:0006101
67 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
68 abnormal hair quantity occasional (7.5%) HP:0011362
69 displacement of the external urethral meatus occasional (7.5%) HP:0100627
70 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840
71 genu valgum rare (5%) HP:0002857
72 autosomal dominant inheritance HP:0000006
73 narrow palate HP:0000189
74 hydrocephalus HP:0000238
75 microcephaly HP:0000252
76 wide anterior fontanel HP:0000260
77 dolichocephaly HP:0000268
78 hypertelorism HP:0000316
79 hypoplasia of the maxilla HP:0000327
80 micrognathia HP:0000347
81 low-set, posteriorly rotated ears HP:0000368
82 abnormality of the pinna HP:0000377
83 conductive hearing impairment HP:0000405
84 anteverted nares HP:0000463
85 strabismus HP:0000486
86 downslanted palpebral fissures HP:0000494
87 telecanthus HP:0000506
88 ptosis HP:0000508
89 myopia HP:0000545
90 shallow orbits HP:0000586
91 dental malocclusion HP:0000689
92 pectus excavatum HP:0000767
93 pectus carinatum HP:0000768
94 thin ribs HP:0000883
95 hooked clavicles HP:0000895
96 osteopenia HP:0000938
97 hyperextensible skin HP:0000974
98 arachnodactyly HP:0001166
99 intellectual disability HP:0001249
100 muscular hypotonia HP:0001252
101 global developmental delay HP:0001263
102 craniosynostosis HP:0001363
103 joint laxity HP:0001388
104 umbilical hernia HP:0001537
105 mitral valve prolapse HP:0001634
106 aortic dilatation HP:0001724
107 talipes equinovarus HP:0001762
108 pes planus HP:0001763
109 metatarsus adductus HP:0001840
110 frontal bossing HP:0002007
111 gastroesophageal reflux HP:0002020
112 scoliosis HP:0002650
113 genu recurvatum HP:0002816
114 obstructive sleep apnea HP:0002870
115 metaphyseal widening HP:0003016
116 dislocated radial head HP:0003083
117 minimal subcutaneous fat HP:0003717
118 sporadic HP:0003745
119 supernumerary ribs HP:0005815
120 arnold-chiari type i malformation HP:0007099
121 c1-c2 vertebral abnormality HP:0008440
122 feeding difficulties in infancy HP:0008872
123 abdominal wall muscle weakness HP:0009023
124 joint contracture of the hand HP:0009473
125 camptodactyly HP:0012385
126 autosomal recessive inheritance HP:0000007
127 everted lower lip vermilion HP:0000232
128 short philtrum HP:0000322
129 low-set ears HP:0000369
130 bulbous nose HP:0000414
131 prominent nasal bridge HP:0000426
132 wide nasal bridge HP:0000431
133 short neck HP:0000470
134 megalocornea HP:0000485
135 thick eyebrow HP:0000574
136 blue sclerae HP:0000592
137 synophrys HP:0000664
138 tapered finger HP:0001182
139 pachygyria HP:0001302
140 hypoplasia of the corpus callosum HP:0002079
141 polymicrogyria HP:0002126
142 aganglionic megacolon HP:0002251
143 hypoplasia of the brainstem HP:0002365
144 highly arched eyebrow HP:0002553
145 wide intermamillary distance HP:0006610
146 sparse hair HP:0008070
147 thick vermilion border HP:0012471
148 corneal ulceration HP:0012804
149 clinodactyly HP:0030084
150 corneal erosion HP:0200020
151 small hand HP:0200055

Drugs & Therapeutics for Goldberg-Shprintzen Megacolon Syndrome

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Drug clinical trials:

Search ClinicalTrials for Goldberg-Shprintzen Megacolon Syndrome

Search NIH Clinical Center for Goldberg-Shprintzen Megacolon Syndrome

Genetic Tests for Goldberg-Shprintzen Megacolon Syndrome

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Genetic tests related to Goldberg-Shprintzen Megacolon Syndrome:

id Genetic test Affiliating Genes
1 Shprintzen-Goldberg Syndrome21 23 SKI
2 Goldberg-Shprintzen Megacolon Syndrome21 23 KIAA1279

Anatomical Context for Goldberg-Shprintzen Megacolon Syndrome

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MalaCards organs/tissues related to Goldberg-Shprintzen Megacolon Syndrome:

32
Eye, Skin, Skeletal muscle, Bone, Testes

Animal Models for Goldberg-Shprintzen Megacolon Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Goldberg-Shprintzen Megacolon Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1SKI, FBN1
2MP:00053718.8SKI, FBN1
3MP:00107688.4SKI, KIAA1279, FBN1

Publications for Goldberg-Shprintzen Megacolon Syndrome

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Variations for Goldberg-Shprintzen Megacolon Syndrome

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

63 (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 Goldberg-Shprintzen Megacolon Syndrome:

7 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1KIAA1279NM_015634.3(KIAA1279): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs121434514GRCh37Chr 10, 70748856: 70748856
2KIAA1279NM_015634.3(KIAA1279): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs121434515GRCh37Chr 10, 70748838: 70748838
3SKINM_003036.3(SKI): c.347G> A (p.Gly116Glu)single nucleotide variantPathogenicrs387907303GRCh37Chr 1, 2160552: 2160552
4SKINM_003036.3(SKI): c.94C> G (p.Leu32Val)single nucleotide variantPathogenicrs387907304GRCh37Chr 1, 2160299: 2160299
5SKINM_003036.3(SKI): c.101G> A (p.Gly34Asp)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
6SKINM_003036.3(SKI): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
7SKINM_003036.3(SKI): c.100G> T (p.Gly34Cys)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
8SKINM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del)deletionPathogenicrs398122889GRCh37Chr 1, 2160488: 2160496
9SKINM_003036.3(SKI): c.101G> T (p.Gly34Val)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
10SKINM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del)deletionPathogenicrs398122914GRCh37Chr 1, 2160485: 2160496
11SKINM_003036.3(SKI): c.104C> A (p.Pro35Gln)single nucleotide variantPathogenicrs397514589GRCh37Chr 1, 2160309: 2160309
12SKINM_003036.3(SKI): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs397514590GRCh37Chr 1, 2160308: 2160308

Expression for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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Expression patterns in normal tissues for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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

Pathways for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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Compounds for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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Sources:
44Novoseek
See all sources

Compounds related to Goldberg-Shprintzen Megacolon Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin d449.1SKI, FBN1
2tgf beta1448.8SKI, FBN1

GO Terms for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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Products for genes affiliated with Goldberg-Shprintzen Megacolon Syndrome

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  • Antibodies
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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Goldberg-Shprintzen Megacolon Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet