SGS
MCID: GLD002
MIFTS: 49

Goldberg-Shprintzen Megacolon Syndrome (SGS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories
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Summaries for Goldberg-Shprintzen Megacolon Syndrome

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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

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 dolichocephaly/scaphocephaly, hypertelorism and downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures. 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:21 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.

Descriptions from OMIM:46 182212,609460

Aliases & Classifications for Goldberg-Shprintzen Megacolon Syndrome

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Sources:
21Genetics Home Reference, 46OMIM, 48Orphanet, 42NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Goldberg-Shprintzen Megacolon Syndrome, Aliases & Descriptions:

Name: Goldberg-Shprintzen Megacolon Syndrome 42 20 22 46 48 62
Goldberg-Shprintzen Syndrome 42 20 22
Shprintzen-Goldberg Syndrome 21 46 48
Goshs 42 48
Shprintzen-Goldberg Craniosynostosis Syndrome 21
 
Marfanoid-Craniosynostosis Syndrome 21
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 Orphanet26 Q87.8
UMLS via Orphanet63 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
  • 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
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • short stature/dwarfism/nanism
  • coloboma of iris
  • 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 161)
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 cognitive impairment hallmark (90%) HP:0100543
19 high palate 81.0811% HP:0000218
20 inguinal hernia 51.3514% HP:0000023
21 high forehead typical (50%) HP:0000348
22 strabismus typical (50%) HP:0000486
23 ptosis typical (50%) HP:0000508
24 pectus excavatum typical (50%) HP:0000767
25 pectus carinatum typical (50%) HP:0000768
26 communicating hydrocephalus typical (50%) HP:0001334
27 craniosynostosis typical (50%) HP:0001363
28 joint hypermobility typical (50%) HP:0001382
29 umbilical hernia typical (50%) HP:0001537
30 abnormality of the mitral valve typical (50%) HP:0001633
31 abnormality of the aortic valve typical (50%) HP:0001646
32 camptodactyly of toe typical (50%) HP:0001836
33 talipes typical (50%) HP:0001883
34 frontal bossing typical (50%) HP:0002007
35 scoliosis typical (50%) HP:0002650
36 camptodactyly of finger typical (50%) HP:0100490
37 ptosis typical (50%) HP:0000508
38 iris coloboma typical (50%) HP:0000612
39 muscular hypotonia typical (50%) HP:0001252
40 cryptorchidism 10.8108% HP:0000028
41 cryptorchidism occasional (7.5%) HP:0000028
42 microcephaly occasional (7.5%) HP:0000252
43 abnormality of the pinna occasional (7.5%) HP:0000377
44 conductive hearing impairment occasional (7.5%) HP:0000405
45 anteverted nares occasional (7.5%) HP:0000463
46 myopia occasional (7.5%) HP:0000545
47 abnormality of the ribs occasional (7.5%) HP:0000772
48 narrow chest occasional (7.5%) HP:0000774
49 abnormality of the metaphyses occasional (7.5%) HP:0000944
50 hyperextensible skin occasional (7.5%) HP:0000974
51 limitation of joint mobility occasional (7.5%) HP:0001376
52 apnea occasional (7.5%) HP:0002104
53 ventriculomegaly occasional (7.5%) HP:0002119
54 arnold-chiari malformation occasional (7.5%) HP:0002308
55 genu valgum occasional (7.5%) HP:0002857
56 elbow dislocation occasional (7.5%) HP:0003042
57 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
58 reduced bone mineral density occasional (7.5%) HP:0004349
59 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
60 pointed chin occasional (7.5%) HP:0000307
61 hypertelorism occasional (7.5%) HP:0000316
62 sloping forehead occasional (7.5%) HP:0000340
63 macrotia occasional (7.5%) HP:0000400
64 wide nasal bridge occasional (7.5%) HP:0000431
65 seizures occasional (7.5%) HP:0001250
66 ventriculomegaly occasional (7.5%) HP:0002119
67 cerebral cortical atrophy occasional (7.5%) HP:0002120
68 abnormality of neuronal migration occasional (7.5%) HP:0002269
69 finger syndactyly occasional (7.5%) HP:0006101
70 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
71 abnormal hair quantity occasional (7.5%) HP:0011362
72 displacement of the external urethral meatus occasional (7.5%) HP:0100627
73 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840
74 genu valgum rare (5%) HP:0002857
75 autosomal dominant inheritance HP:0000006
76 narrow palate HP:0000189
77 hydrocephalus HP:0000238
78 microcephaly HP:0000252
79 wide anterior fontanel HP:0000260
80 dolichocephaly HP:0000268
81 hypertelorism HP:0000316
82 hypoplasia of the maxilla HP:0000327
83 micrognathia HP:0000347
84 low-set, posteriorly rotated ears HP:0000368
85 abnormality of the pinna HP:0000377
86 conductive hearing impairment HP:0000405
87 anteverted nares HP:0000463
88 strabismus HP:0000486
89 downslanted palpebral fissures HP:0000494
90 telecanthus HP:0000506
91 ptosis HP:0000508
92 myopia HP:0000545
93 shallow orbits HP:0000586
94 dental malocclusion HP:0000689
95 pectus excavatum HP:0000767
96 pectus carinatum HP:0000768
97 thin ribs HP:0000883
98 hooked clavicles HP:0000895
99 osteopenia HP:0000938
100 hyperextensible skin HP:0000974
101 arachnodactyly HP:0001166
102 intellectual disability HP:0001249
103 muscular hypotonia HP:0001252
104 global developmental delay HP:0001263
105 craniosynostosis HP:0001363
106 joint laxity HP:0001388
107 umbilical hernia HP:0001537
108 mitral valve prolapse HP:0001634
109 aortic dilatation HP:0001724
110 talipes equinovarus HP:0001762
111 pes planus HP:0001763
112 metatarsus adductus HP:0001840
113 frontal bossing HP:0002007
114 gastroesophageal reflux HP:0002020
115 scoliosis HP:0002650
116 genu recurvatum HP:0002816
117 obstructive sleep apnea HP:0002870
118 metaphyseal widening HP:0003016
119 dislocated radial head HP:0003083
120 minimal subcutaneous fat HP:0003717
121 sporadic HP:0003745
122 supernumerary ribs HP:0005815
123 arnold-chiari type i malformation HP:0007099
124 c1-c2 vertebral abnormality HP:0008440
125 feeding difficulties in infancy HP:0008872
126 abdominal wall muscle weakness HP:0009023
127 joint contracture of the hand HP:0009473
128 camptodactyly HP:0012385
129 autosomal recessive inheritance HP:0000007
130 everted lower lip vermilion HP:0000232
131 microcephaly HP:0000252
132 short philtrum HP:0000322
133 hypoplasia of the maxilla HP:0000327
134 low-set ears HP:0000369
135 bulbous nose HP:0000414
136 prominent nasal bridge HP:0000426
137 wide nasal bridge HP:0000431
138 short neck HP:0000470
139 megalocornea HP:0000485
140 downslanted palpebral fissures HP:0000494
141 telecanthus HP:0000506
142 ptosis HP:0000508
143 thick eyebrow HP:0000574
144 blue sclerae HP:0000592
145 synophrys HP:0000664
146 tapered finger HP:0001182
147 intellectual disability HP:0001249
148 global developmental delay HP:0001263
149 pachygyria HP:0001302
150 hypoplasia of the corpus callosum HP:0002079
151 polymicrogyria HP:0002126
152 aganglionic megacolon HP:0002251
153 hypoplasia of the brainstem HP:0002365
154 highly arched eyebrow HP:0002553
155 wide intermamillary distance HP:0006610
156 sparse hair HP:0008070
157 thick vermilion border HP:0012471
158 corneal ulceration HP:0012804
159 clinodactyly HP:0030084
160 corneal erosion HP:0200020
161 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 Syndrome20 22 SKI
2 Goldberg-Shprintzen Megacolon Syndrome20 22 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:

64 (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:

6 (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
  • Proteins
  • Lysates

Sources for Goldberg-Shprintzen Megacolon Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet