Microphthalmia, and Epistaxis

Diseases related with Microphthalmia and Epistaxis

In the following list you will find some of the most common rare diseases related to Microphthalmia and Epistaxis that can help you solving undiagnosed cases.

Top matches:

Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Neoplasm
  • Strabismus
  • Cataract
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 5; HPS5

HERMANSKY-PUDLAK SYNDROME TYPE 7 Is also known as hps7

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Respiratory distress
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 7

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 6; HPS6

Other less relevant matches:

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).PHPV shares phenotypic overlap with Norrie disease (OMIM ). Genetic Heterogeneity of Persistent Hyperplastic Primary VitreousA dominant form of PHPV has been described (PHPVAD ).

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS Is also known as rnanc|persistent fetal vasculature|persistent fetal vasculature syndrome|pfvs|congenital retinal detachment|ncrna disease|retinal nonattachment and falciform detachment|ncrna|phpv|retinal nonattachment, nonsyndromic congenital|non-syndromic congenital ret

Related symptoms:

  • Nystagmus
  • Cataract
  • Blindness
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

Low match MRCS SYNDROME

MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400.

MRCS SYNDROME Is also known as microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome|vitreoretinochoroidopathy, autosomal dominant|advirc|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MRCS SYNDROME

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 Is also known as facd|fad2|fa4|fanconi anemia, complementation group d|fanconi pancytopenia, type 4|fancd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2

Fanconi anemia is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC Is also known as facc|fac|fa3|fanconi pancytopenia, type 3

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC

Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

Top 5 symptoms//phenotypes associated to Microphthalmia and Epistaxis

Symptoms // Phenotype % cases
Bruising susceptibility Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microphthalmia and Epistaxis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Neutropenia Thrombocytopenia Reduced visual acuity Microcephaly Hearing impairment Global developmental delay Hypopigmentation of the skin Leukemia Cataract Short stature Abnormality of skin pigmentation Albinism Pancytopenia Absent thumb Abnormal heart morphology Glaucoma Reticulocytopenia Small for gestational age Absent radius Horseshoe kidney Ectopic kidney Cafe-au-lait spot Bone marrow hypocellularity Hypergonadotropic hypogonadism Duplicated collecting system Renal agenesis Short thumb Visual impairment Cryptorchidism Prolonged G2 phase of cell cycle Complete duplication of thumb phalanx Chromosomal breakage induced by crosslinking agents Abnormal bleeding Abnormal lung morphology Colitis Hypoplasia of the fovea Ocular albinism Blindness Abnormality of cardiovascular system morphology Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA

Rare Symptoms - Less than 30% cases

Vitreoretinopathy Phthisis bulbi Shallow anterior chamber Edema Generalized hypotonia Congenital cataract Abnormality of the eye Macular hypoplasia Vitreous hemorrhage Muscle weakness White hair Menorrhagia Retinal detachment Partial albinism Ataxia Microcornea Prolonged bleeding time Corneal opacity Astigmatism Generalized hypopigmentation Photophobia Interstitial pulmonary abnormality Optic nerve hypoplasia Pigmentary retinopathy Bilateral microphthalmos Retinal dystrophy High myopia Retinal atrophy Cone/cone-rod dystrophy Abnormality of color vision Abnormal retinal morphology Anterior synechiae of the anterior chamber Dyschromatopsia Macular atrophy Chorioretinal atrophy Hypertonia Nyctalopia Retinopathy Rod-cone dystrophy Abnormality of the skeletal system Myopia Retinal fold Hyphema Retinal nonattachment Persistent pupillary membrane Posterior synechiae of the anterior chamber Leukocoria Exudative vitreoretinopathy Band keratopathy Remnants of the hyaloid vascular system Macular edema Recurrent fractures Cone dysfunction syndrome Retinoblastoma Inability to walk Increased susceptibility to fractures Metaphyseal widening Pathologic fracture Barrel-shaped chest Retinal dysplasia Glioma Iris atrophy Platyspondyly Severe platyspondyly Absent anterior chamber of the eye Growth delay Epicanthus Brachydactyly Syndactyly Delayed skeletal maturation Brachycephaly Joint hypermobility Joint laxity Cystoid macular edema Optically empty vitreous Scleral staphyloma Pulverulent cataract Presenile cataracts Retinal neovascularization Moderate myopia Retinal arteriolar constriction Peripheral retinal atrophy Posterior staphyloma Angle closure glaucoma Osteopenia Chorioretinal hypopigmentation Abnormality of chorioretinal pigmentation Retinal arteriolar occlusion Muscular hypotonia Ventricular septal defect Intellectual disability, mild Osteoporosis Kyphoscoliosis Buphthalmos Progressive peripheral neuropathy Pendular nystagmus Immunodeficiency Peripheral neuropathy Hepatomegaly Fever Skeletal muscle atrophy Tremor Gait disturbance Atrial septal defect Cerebellar atrophy Splenomegaly Recurrent infections Impaired ADP-induced platelet aggregation Areflexia Hyporeflexia Recurrent respiratory infections Jaundice Hepatosplenomegaly Difficulty walking Rigidity Mental deterioration Developmental regression Spastic paraplegia Seizures Abnormal platelet granules Paraplegia Hyperopic astigmatism Horizontal nystagmus Pulmonary fibrosis Abnormality of the gastrointestinal tract Foam cells Bladder neoplasm Respiratory distress Intracranial hemorrhage Impaired platelet aggregation Hypopigmentation of the fundus Headache Absent foveal reflex Hernia Anal atresia Migraine Recurrent urinary tract infections Exotropia Recurrent upper respiratory tract infections Iron deficiency anemia Congenital nystagmus Rotary nystagmus Endometriosis Abnormality of movement Paresthesia Uveitis Recurrent bacterial skin infections Hypopigmentation of hair Gingival bleeding Iris hypopigmentation Gingivitis Periodontitis Fair hair Spinocerebellar tract degeneration Hemophagocytosis Hypersplenism Oculogyric crisis Resting tremor Hypofibrinogenemia Abnormal leukocyte morphology Recurrent cutaneous abscess formation Giant melanosomes in melanocytes Abnormality of multiple cell lineages in the bone marrow Recurrent systemic pyogenic infections Generalized hypopigmentation of hair Iris coloboma Esotropia Congenital blindness Generalized hyperpigmentation Sensory axonal neuropathy Lymphadenopathy Abnormality of extrapyramidal motor function Peripheral axonal neuropathy Falls Sensory neuropathy Neurodegeneration Parkinsonism Brain atrophy Lymphoma Gastrointestinal hemorrhage Peripheral demyelination Bradykinesia Cutaneous photosensitivity Cerebral hemorrhage Hypertriglyceridemia Amblyopia Hyperpigmentation of the skin Skin ulcer Foot dorsiflexor weakness Leukopenia Cranial nerve paralysis Abnormality of vision Decreased nerve conduction velocity Melanocytic nevus Hypotelorism


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