Hydrocephalus, and Abnormality of the cardiovascular system

Diseases related with Hydrocephalus and Abnormality of the cardiovascular system

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Abnormality of the cardiovascular system that can help you solving undiagnosed cases.


Top matches:

Low match OROFACIAL CLEFT 11; OFC11


Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995).

OROFACIAL CLEFT 11; OFC11 Is also known as cleft lip with or without cleft palate, nonsyndromic, 11

Related symptoms:

  • Hydrocephalus
  • Cleft lip
  • Oral cleft
  • Facial cleft
  • Single umbilical artery


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 11; OFC11

Low match VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2


Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome (Fregin et al., 2002).

Related symptoms:

  • Hydrocephalus
  • Abnormal bleeding
  • Intracranial hemorrhage
  • Reduced factor IX activity
  • Reduced factor VII activity


SOURCES: MESH OMIM MENDELIAN

More info about VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2

Low match 46,XY SEX REVERSAL 9; SRXY9


46,XY SEX REVERSAL 9; SRXY9 Is also known as 46,xy sex reversal, zfpm2-related

Related symptoms:

  • Hydrocephalus
  • Clinodactyly
  • Abnormal heart morphology
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about 46,XY SEX REVERSAL 9; SRXY9

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Other less relevant matches:

Low match HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3


HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Related symptoms:

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

Low match GLIOMA SUSCEPTIBILITY 1; GLM1


Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010).Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994).Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (OMIM ), melanoma-astrocytoma syndrome (OMIM ), neurofibromatosis-1 (NF1 ) and NF2 (OMIM ), and tuberous sclerosis (TSC1 ). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to GliomaOther glioma susceptibilities include GLM2 (OMIM ), caused by variation in the PTEN gene (OMIM ) on chromosome 10q23; GLM3 (OMIM ), caused by variation in the BRCA2 gene (OMIM ) on chromosome 13q12; GLM4 (OMIM ), mapped to chromosome 15q23-q26.3; GLM5 (OMIM ), mapped to chromosome 9p21; GLM6 (OMIM ), mapped to chromosome 20q13; GLM7 (OMIM ), mapped to chromosome 8q24; GLM8 (OMIM ), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR ), ERBB2 (OMIM ), LGI1 (OMIM ), GAS41 (OMIM ), GLI (OMIM ), DMBT1 (OMIM ), IDH1 (OMIM ), IDH2 (OMIM ), BRAF (OMIM ), PARK2 (OMIM ), TP53 (OMIM ), RB1 (OMIM ), PIK3CA (OMIM ), 10p15, 19q, and 17p13.3.

Related symptoms:

  • Neoplasm
  • Hydrocephalus
  • Polyhydramnios
  • Melanoma
  • Growth abnormality


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 1; GLM1

Low match CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS


Related symptoms:

  • Hypertelorism
  • Hydrocephalus
  • Encephalocele
  • Abnormality of the outer ear
  • Abnormal electroretinogram


SOURCES: OMIM MENDELIAN

More info about CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS

Low match MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3


This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014).For a discussion of genetic heterogeneity of MPPH, see MPPH1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Macrocephaly
  • Ventriculomegaly
  • Hydrocephalus
  • Absent speech


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3

Low match HYDROLETHALUS SYNDROME 2; HLS2


Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011).Acrocallosal syndrome (ACLS ) is an allelic disorder with a less severe phenotype.For a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Ventriculomegaly
  • Hydrocephalus
  • Agenesis of corpus callosum


SOURCES: OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 2; HLS2

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Manzini et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gtdc2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ventriculomegaly
  • Hydrocephalus


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8

Low match PAPILLOMA OF CHOROID PLEXUS


Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor (see this term), accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.

PAPILLOMA OF CHOROID PLEXUS Is also known as cpp|choroid plexus papilloma

Related symptoms:

  • Seizures
  • Neoplasm
  • Cognitive impairment
  • Visual impairment
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Abnormality of the cardiovascular system

Symptoms // Phenotype % cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Postaxial polydactyly Rare - less than 30% cases
Polydactyly Rare - less than 30% cases
Global developmental delay Rare - less than 30% cases
Neoplasm Rare - less than 30% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Abnormality of the cardiovascular system. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Polyhydramnios Cerebellar hypoplasia Choroid plexus papilloma Reduced prothrombin activity Oral cleft Micrognathia Thick corpus callosum Frontoparietal polymicrogyria Perisylvian polymicrogyria Megalencephaly Postaxial hand polydactyly Polymicrogyria Agenesis of corpus callosum Facial cleft Prominent forehead Absent speech Macrocephaly Single umbilical artery Abnormal corneal endothelium morphology Cleft palate Preaxial polydactyly Posterior fossa cyst Retinal dysplasia Hemiplegia/hemiparesis Hypertonia Visual impairment Cognitive impairment Seizures Type II lissencephaly Congenital muscular dystrophy Molar tooth sign on MRI Lissencephaly Intellectual disability, profound Muscular dystrophy Microphthalmia Generalized hypotonia Intellectual disability Anencephaly Anterior encephalocele Anterior segment developmental abnormality Reduced factor X activity Fused labia minora Dandy-Walker malformation Brain atrophy Intracranial hemorrhage Reduced factor IX activity Reduced factor VII activity Abnormal facial shape Sex reversal Preeclampsia Hydrocele testis Gonadal dysgenesis Ambiguous genitalia Autistic behavior Autism Abnormal heart morphology Clinodactyly Holoprosencephaly Hydranencephaly Abnormal electroretinogram Papilloma Abnormality of the outer ear Encephalocele Hypertelorism Cleft lip Ependymoma Glioblastoma multiforme Schwannoma Severe hydrocephalus Glioma Astrocytoma Brain neoplasm Neurofibromas Growth abnormality Melanoma Abnormal bleeding Abnormality of nervous system morphology



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