GUBS
MCID: GNT184
MIFTS: 18

Genitourinary and/or Brain Malformation Syndrome (GUBS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Genitourinary and/or Brain Malformation Syndrome

MalaCards integrated aliases for Genitourinary and/or Brain Malformation Syndrome:

Name: Genitourinary and/or Brain Malformation Syndrome 56 6
Genitourinary and/or/brain Malformation Syndrome 56
Gubs 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
disorders of sex differentiation observed, with 46,xy individuals who appeared to be phenotypic females
46,xy phenotypic males may have uterus, fallopian tubes, and/or ovaries present
46,xy phenotypic females may have normal-appearing or abnormal uterus, fallopian tubes, and/or ovaries present


Classifications:



External Ids:

OMIM 56 618820

Summaries for Genitourinary and/or Brain Malformation Syndrome

OMIM : 56 Genitourinary and/or brain malformation syndrome (GUBS) is characterized by variable genitourinary anomalies, including disorders of sex differentiation, and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly. Other variable congenital anomalies have been observed, including omphalocele and gastrointestinal tract atresia with aberrant vessels (Hughes et al., 2020). (618820)

MalaCards based summary : Genitourinary and/or Brain Malformation Syndrome, is also known as genitourinary and/or/brain malformation syndrome. An important gene associated with Genitourinary and/or Brain Malformation Syndrome is PPP1R12A (Protein Phosphatase 1 Regulatory Subunit 12A). Affiliated tissues include brain, uterus and bone.

Related Diseases for Genitourinary and/or Brain Malformation Syndrome

Symptoms & Phenotypes for Genitourinary and/or Brain Malformation Syndrome

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
seizures
hydrocephalus
agenesis of corpus callosum
absent septum pellucidum
more
Skeletal Spine:
kyphosis
nonvisualization of the lumbosacral spine (on 11-week antenatal ultrasound)

Skeletal Skull:
macrocephaly
microcephaly
fetal acrania

Genitourinary Internal Genitalia Male:
cryptorchidism
streak gonads

Head And Neck Ears:
low-set ears
large protruding ears
deformed pinnae

Cardiovascular Vascular:
patent ductus arteriosus
aberrant mesenteric blood supply

Abdomen External Features:
omphalocele

Genitourinary Internal Genitalia Female:
uterus didelphys
streak gonads
gonadal degeneration

Head And Neck Mouth:
small mouth

Neurologic Behavioral Psychiatric Manifestations:
autistic features
attention-deficit/hyperactivity disorder
defiance

Genitourinary Kidneys:
renal asymmetry
pyelectasis

Head And Neck Nose:
wide nasal tip
absent nasal bone
small pointed nose

Genitourinary Ureters:
hydronephrosis (grade 1)

Head And Neck Eyes:
hypertelorism
strabismus
ptosis
astigmatism
epicanthus inversus
more
Head And Neck Head:
macrocephaly
microcephaly
fetal acrania

Muscle Soft Tissue:
myoclonus
decreased subcutaneous fat
hypotonia

Head And Neck Face:
micrognathia
long face
long philtrum
triangular face
flat facial profile
more
Genitourinary External Genitalia Male:
micropenis
ambiguous genitalia
gonadal dysgenesis
chordee
hypospadias, variable

Skeletal Feet:
toe syndactyly
foot pronation

Abdomen Gastrointestinal:
jejunal atresia
blind shallow rectal cleft
echogenic bowel (on 11-week antenatal ultrasound)
ileal atresia

Genitourinary External Genitalia Female:
clitoral hypertrophy
urogenital sinus
posterior labial fusion
labial rugation
labial pigmentation

Skeletal:
delayed bone age

Skeletal Limbs:
stiff joints

Skeletal Hands:
fifth-finger clinodactyly
ulnar drift
fisting

Chest Breasts:
gynecomastia, mild

Clinical features from OMIM:

618820

Drugs & Therapeutics for Genitourinary and/or Brain Malformation Syndrome

Search Clinical Trials , NIH Clinical Center for Genitourinary and/or Brain Malformation Syndrome

Genetic Tests for Genitourinary and/or Brain Malformation Syndrome

Anatomical Context for Genitourinary and/or Brain Malformation Syndrome

MalaCards organs/tissues related to Genitourinary and/or Brain Malformation Syndrome:

40
Brain, Uterus, Bone, Ovary

Publications for Genitourinary and/or Brain Malformation Syndrome

Articles related to Genitourinary and/or Brain Malformation Syndrome:

# Title Authors PMID Year
1
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. 6 56
31883643 2020
2
Increasing use of anticoagulants in Germany and its impact on hospitalization rates for genitourinary bleeding. 61
32077008 2020
3
Towards a behavioral-matching based compilation of synthetic biology functions. 61
26141968 2015

Variations for Genitourinary and/or Brain Malformation Syndrome

ClinVar genetic disease variations for Genitourinary and/or Brain Malformation Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PPP1R12A NM_002480.3(PPP1R12A):c.1510C>T (p.Arg504Ter)SNV Pathogenic 827962 12:80202303-80202303 12:79808523-79808523
2 PPP1R12A NM_002480.3(PPP1R12A):c.1189del (p.Thr397fs)deletion Pathogenic 827963 12:80211224-80211224 12:79817444-79817444
3 PPP1R12A NM_002480.3(PPP1R12A):c.2033_2034del (p.Glu677_Ser678insTer)deletion Pathogenic 827964 12:80192331-80192332 12:79798551-79798552

Expression for Genitourinary and/or Brain Malformation Syndrome

Search GEO for disease gene expression data for Genitourinary and/or Brain Malformation Syndrome.

Pathways for Genitourinary and/or Brain Malformation Syndrome

GO Terms for Genitourinary and/or Brain Malformation Syndrome

Sources for Genitourinary and/or Brain Malformation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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