Micro syndrome

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.



Input patient's signs and symptoms


Narrow down the case reports



Total: 24 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 17351351
 Warburg Micro syndrome in a Turkish boy.
Yuksel A, Yesil G, Aras C, Seven M.
Clin Dysmorphol. 2007;16(2):89-93.
Microcephaly Micrognathia
RAB3GAP1
c|SUB|G|748+1|A;RS#:587776651 rs587776651
Asians Child, Preschool Homo sapiens Magnetic Resonance Imaging Male Syndrome
2
(39.0%)		 29675078
(5890559)
 Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters.
Loiudice P, Napoli D, Ragone MC, Nardi M, Casini G.
J Pediatr Neurosci. 2017;12(4):360-362.
Postnatal microcephaly
RAB3GAP1
c|SUB|G|519|A c|SUB|T|2486|A p|SUB|L|829|X p|SUB|W|173|X
2
(39.0%)		 27764520
 Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.
Kabzinska D, Mierzewska H, Senderek J, Kochanski A.
Folia Neuropathol. 2016;54(3):273-281.
Microcephaly
RAB3GAP1
Cardiomyopathies Cataract Child, Preschool Cornea Females High-Throughput Nucleotide Sequencing Homo sapiens Hypogonadism Infant Intellectual Disability Microcephaly Mutation Optic Atrophy Peripheral Nervous System Diseases Phenotype
2
(39.0%)		 27195044
(4862300)
 Warburg micro syndrome in siblings from India.
Sekhon PK, Premalatha R, Sabapathy S.
J Pediatr Neurosci. 2016;11(1):83-5.
Microcephaly
2
(39.0%)		 26852512
 RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.
Tasdemir S, Sahin I, Morris-Rosendahl DJ, Marzioglu E, Cayir A, Yuce I, Tatar A.
Genet Couns. 2015;26(4):415-23.
Microcephaly
RAB18 RAB3GAP1 RAB3GAP2 RABGAP1 TBC1D20
c|SUB|G|748+1|A;RS#:587776651
Brain Cataract Cornea Homo sapiens Hypogonadism Infant Intellectual Disability Magnetic Resonance Imaging Male Microcephaly Mutation Optic Atrophy rab3 GTP-Binding Proteins
2
(39.0%)		 26421802
 Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T.
Brain Dev. 2016;38(3):337-40.
Microcephaly
RAB3GAP1
c|SUB|C|1009|T;RS#:766629205 c|SUB|G|560|C p|SUB|R|187|P p|SUB|R|337|X;RS#:766629205 rs1553444935
Cataract Child Child, Preschool Cornea Exons Females Genetic Association Studies Heterozygote Homo sapiens Hypogonadism Intellectual Disability Male Microcephaly Mutation Optic Atrophy Sibling rab3 GTP-Binding Proteins
2
(39.0%)		 26138576
 Consanguinity as an Adjunct Diagnostic Tool.
Srivastava P, Saxena D, Joshi S, Phadke SR.
Indian J Pediatr. 2016;83(3):258-60.
Microcephaly
rs797045905
Cataract Child, Preschool Cornea DNA Mutational Analysis Females Genotype Homo sapiens Homozygote Hypogonadism Intellectual Disability Microcephaly Mutation Optic Atrophy Single Nucleotide Polymorphism rab3 GTP-Binding Proteins
2
(39.0%)		 25899426
 Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
Arroyo-Carrera I, de Zaldivar Tristancho MS, Bermejo-Sanchez E, Martinez-Fernandez ML, Lopez-Lafuente A, MacDonald A, Zuniga A, Luis Gomez-Skarmeta J, Luisa Martinez-Frias M.
Am J Med Genet A. 2015;167(6):1243-51.
Microcephaly
RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
Adaptor Proteins, Signal Transducing Cataract Chromosome Deletion Chromosomes, Human, Pair 1 Cornea DNA Mutational Analysis Exons Formins Genetic Association Studies Haploinsufficiency Homo sapiens Hypogonadism Intellectual Disability Intercellular Signaling Peptides and Proteins Male Microcephaly Microfilament Proteins Muscarinic Acetylcholine Receptor Nuclear Proteins Optic Atrophy RGS Proteins Receptor, Muscarinic M3 Rod Opsins
2
(39.0%)		 25332050
(4224754)
 Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Picker-Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hubner C, Horn D, Kaindl AM.
Orphanet J Rare Dis. 2014;9:113.
Microcephaly
RAB18 RAB3GAP2 TBC1D1 TBC1D20
Cataract Child Child, Preschool Cornea Females Gene Deletion Homo sapiens Homozygote Hypogonadism Intellectual Disability Male Microcephaly Optic Atrophy rab3 GTP-Binding Proteins
2
(39.0%)		 23124039
 Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.
Neubert G, von Au K, Drossel K, Tzschach A, Horn D, Nickel R, Kaindl AM.
Gene. 2013;512(2):453-5.
Microcephaly
ATP10A CDKL5 GABRA5 GABRB3 GOLGA6L2 HERC2 MBD5 MECP2 OCA2 RAB3GAP1 UBE3A ZRANB3
Adenosine Triphosphatases Angelman Syndrome Chromosome Aberrations Chromosomes, Human, Pair 15 Females GABA-A Receptor Homo sapiens Infant Infection Intellectual Disability Male Membrane Transport Proteins
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000218 High palate Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000482 Microcornea Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0000823 Delayed puberty Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001257 Spasticity Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001302 Pachygyria Very frequent (99-80%)
HP:0001339 Lissencephaly Very frequent (99-80%)
HP:0001387 Joint stiffness Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0100704 Cerebral visual impairment Very frequent (99-80%)
HP:0000060 Clitoral hypoplasia Frequent (79-30%)
HP:0000064 Hypoplastic labia minora Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000649 Abnormality of visual evoked potentials Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0002230 Generalized hirsutism Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0007703 Abnormality of retinal pigmentation Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0000126 Hydronephrosis Occasional (29-5%)
HP:0000480 Retinal coloboma Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001317 Abnormal cerebellum morphology Occasional (29-5%)
HP:0001320 Cerebellar vermis hypoplasia Occasional (29-5%)
HP:0009830 Peripheral neuropathy Occasional (29-5%)
HP:0100542 Abnormal localization of kidney Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 17

HPO ID Term # of case reports
HP:0000252 Microcephaly 9
HP:0000518 Cataract 8
HP:0000568 Microphthalmia 6
HP:0000482 Microcornea 4
HP:0000648 Optic atrophy 4
HP:0000135 Hypogonadism 2
HP:0001249 Intellectual disability 2
HP:0002079 Hypoplasia of the corpus callosum 2
HP:0009830 Peripheral neuropathy 2
HP:0025356 Psychomotor retardation 2
HP:0000707 Abnormality of the nervous system 1
HP:0001382 Joint hypermobility 1
HP:0001638 Cardiomyopathy 1
HP:0002539 Cortical dysplasia 1
HP:0004322 Short stature 1
HP:0005484 Postnatal microcephaly 1
HP:0008897 Postnatal growth retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 22930
RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 25782
RAB18 RAB18, member RAS oncogene family 22931
TBC1D20 TBC1 domain family member 20 128637