Immunodeficiency, and Photophobia

Diseases related with Immunodeficiency and Photophobia

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

Top matches:

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Other less relevant matches:

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

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

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

High match CHARGE SYNDROME

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.

EPITHELIAL RECURRENT EROSION DYSTROPHY Is also known as corneal erosions, recurring hereditary|dystrophia smolandiensis|dystrophia helsinglandica|ered|recurrent hereditary corneal erosions

Related symptoms:

  • Pain
  • Visual impairment
  • Photophobia
  • Corneal opacity
  • Corneal dystrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EPITHELIAL RECURRENT EROSION DYSTROPHY

Keratoendotheliitis fugax hereditaria is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye. Episodes generally decrease in frequency and become more mild with age (summary by Turunen et al., 2018).

KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH Is also known as keratitis fugax hereditaria

Related symptoms:

  • Pain
  • Edema
  • Photophobia
  • Corneal opacity
  • Opacification of the corneal stroma


SOURCES: MESH OMIM MENDELIAN

More info about KERATOENDOTHELIITIS FUGAX HEREDITARIA; KEFH

Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy|corneal endothelial dystrophy 1, autosomal dominant, formerly|ppcd|ched1, formerly|posterior polymorphous dystrophy|maumenee corneal dystrophy|posterior polymorphous corneal dystrophy|corneal dystrophy, hereditary polymorphous poster

Related symptoms:

  • Edema
  • Glaucoma
  • Photophobia
  • Corneal opacity
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Photophobia

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Keratitis Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Photophobia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Intellectual disability Epiphora Recurrent respiratory infections Strabismus Visual impairment Corneal opacity Cleft palate Mental deterioration Seizures Recurrent corneal erosions Hyperkeratosis Short stature Choanal atresia Fair hair Omphalocele Conductive hearing impairment Cryptorchidism Hydronephrosis Renal dysplasia Neutropenia Albinism Edema

Rare Symptoms - Less than 30% cases

Partial albinism Abnormality of the genital system Hypohidrosis Oligohydramnios Gingival bleeding Iris hypopigmentation Renal agenesis Ectodermal dysplasia Nail dysplasia Fever Malar flattening Syndactyly Inguinal hernia Alopecia Polydactyly Micropenis Cleft lip Growth hormone deficiency Microtia Anal atresia Cleft upper lip Pulmonary hypoplasia Vesicoureteral reflux Hypertelorism Hypogonadotrophic hypogonadism Blepharitis Conjunctivitis Umbilical hernia Muscular hypotonia Feeding difficulties Intrauterine growth retardation Ventriculomegaly Microphthalmia Hernia Corneal erosion Growth delay Talipes Abnormality of the ribs Mixed hearing impairment Hemivertebrae Opacification of the corneal stroma Plagiocephaly Failure to thrive Scoliosis Abnormality of the urinary system Heat intolerance Hand polydactyly Hydroureter Absent septum pellucidum Ectrodactyly Melanocytic nevus Generalized hypopigmentation Generalized hypotonia Abnormality of vision Atrial septal defect Abnormality of the eye Developmental regression Falls Brain atrophy Cranial nerve paralysis Hypopigmentation of hair Bifid scrotum Long philtrum Retrognathia Gastrointestinal hemorrhage Reduced visual acuity Abnormal bleeding Hypopigmentation of the skin Bruising susceptibility Astigmatism Respiratory tract infection Hepatomegaly Blindness Myopia Epistaxis Neurodegeneration Cutaneous photosensitivity Hepatosplenomegaly Pain Corneal dystrophy Ocular albinism Epicanthus Periodontitis Pulmonary fibrosis Recurrent bacterial infections Epidermal acanthosis Carious teeth Cerebellar atrophy Sensorineural hearing impairment Dysphagia Pneumonia Posteriorly rotated ears Abnormality of the hair Splenomegaly Abnormality of dental enamel Flexion contracture Ataxia Thrombocytopenia Amblyopia Optic atrophy Ptosis Depressed nasal bridge Abnormal cardiac septum morphology Respiratory insufficiency Anteverted nares Paralysis Talipes equinovarus Ventricular septal defect Brachydactyly Abnormality of the skeletal system Abnormality of the pinna Coloboma Downslanted palpebral fissures Hydrocephalus Abnormality of cardiovascular system morphology Behavioral abnormality Autism Gastroesophageal reflux Facial palsy Low-set, posteriorly rotated ears Glaucoma Polyhydramnios Apnea Hypothyroidism Narrow mouth Feeding difficulties in infancy Postnatal growth retardation Hypogonadism Prominent forehead Overgrowth Clinodactyly of the 5th finger Abnormal heart morphology Visual loss Patent ductus arteriosus Hypospadias Midface retrusion Respiratory failure Lop ear Micrognathia Alopecia of scalp Thin eyebrow Thinning of Descemet membrane Alopecia totalis Olivopontocerebellar atrophy Hypoplastic fingernail Follicular hyperkeratosis Abnormal eyelid morphology Absent eyelashes Abnormal eyelash morphology Parakeratosis Alopecia universalis Uveitis Submucous cleft hard palate Uveal ectropion Oligodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Abnormal Descemet membrane morphology Absent eyebrow Intestinal obstruction Oxycephaly Cheilitis Ectropion Thin fingernail Keratoconus Increased intraocular pressure Ectopia pupillae Anterior synechiae of the anterior chamber Iris atrophy Attention deficit hyperactivity disorder Band keratopathy Ichthyosis follicularis Abnormal pelvis bone morphology Scleritis Abnormality of the upper urinary tract Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Corneal stromal edema Unilateral chest hypoplasia Dandy-Walker malformation Pectus carinatum Hypoplasia of the zygomatic bone Retinal coloboma Duodenal atresia Eyelid coloboma Abnormality of the inner ear Aplasia/Hypoplasia of the thymus Abnormally large globe Unilateral facial palsy Choanal stenosis Abnormal cranial nerve morphology Hand monodactyly Square face Hypoplasia of the cochlea Bifid femur Down-sloping shoulders Abnormal soft palate morphology Broad neck Parathyroid hypoplasia Double outlet right ventricle External ear malformation Hypoplasia of the semicircular canal Facial paralysis Tics Posterior choanal atresia Peripheral pulmonary artery stenosis Narrow naris Arrhinencephaly Dimple chin Interrupted aortic arch Abnormality of female internal genitalia Abnormality of the thymus Microphallus Lacrimation abnormality Abnormal aortic valve morphology Gonadotropin deficiency Hyposmia Anterior hypopituitarism Aplasia/Hypoplasia of the earlobes Aqueductal stenosis Labial hypoplasia Abnormality of tibia morphology Bilateral choanal atresia Aortic arch aneurysm Abnormality of the adrenal glands Abnormality of bone mineral density Abnormal palmar dermatoglyphics Parachute mitral valve Esophageal atresia Prominent nasal bridge Small nail Holoprosencephaly Short chin Horseshoe kidney Hypocalcemia Narrow face Aspiration Lymphopenia Preauricular skin tag Short thumb Conjunctival hyperemia Cutaneous syndactyly Renal hypoplasia Tetralogy of Fallot Abnormality of the cervical spine Webbed neck Delayed eruption of teeth Highly arched eyebrow Iris coloboma Facial asymmetry Delayed puberty Pulmonic stenosis Torticollis Abnormality of the outer ear Anal stenosis Hypoplasia of the ulna Unilateral renal agenesis Abnormality of immune system physiology Weak cry Corneal neovascularization Decreased corneal sensation Broad palm External genital hypoplasia Vestibular dysfunction Blurred vision Mask-like facies Anosmia Tracheoesophageal fistula Aplasia/Hypoplasia of the cerebellum Anophthalmia Cupped ear Ocular pain Obsessive-compulsive behavior Chorioretinal coloboma Overfolded helix Laryngomalacia Reduced number of teeth Absent radius Abnormal leukocyte morphology Erythroderma Toe syndactyly Thin skin Split hand Sparse scalp hair Microdontia Broad nasal tip Hypodontia Hypoplasia of the maxilla Oral cleft Abnormality of the foot Small for gestational age Sparse eyelashes Short philtrum Blepharophimosis Telecanthus Freckles in sun-exposed areas Menometrorrhagia Squamous cell carcinoma of the skin Impaired platelet aggregation Abnormal thrombocyte morphology Ulcerative colitis Sparse and thin eyebrow Oligodontia Hematochezia Dysuria Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Sparse axillary hair Abnormality of the genitourinary system Anodontia Blue irides Depressed nasal tip Bilateral cleft lip Split foot Xerostomia Hypoplastic nipples Hypopituitarism Preaxial polydactyly Abnormality of the optic nerve Abnormality of visual evoked potentials Ureterocele Motor delay Interstitial pneumonitis Acetabular dysplasia Hip dysplasia Smooth philtrum Thin upper lip vermilion Coarse facial features Upslanted palpebral fissure Intellectual disability, mild Wide nasal bridge Low-set ears Congenital neutropenia Abnormal facial shape Conjunctival telangiectasia Progressive sensorineural hearing impairment Progressive muscle weakness Telangiectasia Unsteady gait Pes cavus Dysarthria Muscle weakness Granulocytopenia Intermittent thrombocytopenia Severe vision loss Long eyelashes Freckling Colitis Prolonged bleeding time Restrictive ventilatory defect Basal cell carcinoma Inflammation of the large intestine Melanoma Acanthosis nigricans Anorexia Thickened skin Aberrant melanosome maturation Abnormal lung morphology Nevus Malabsorption Dyspnea Weight loss Abdominal pain Renal insufficiency Cardiomyopathy Fatigue Cataract Nail pits Semilobar holoprosencephaly Psoriasiform dermatitis Kyphosis Macrotia Cerebral cortical atrophy Hyperhidrosis Dementia Severe short stature Agenesis of corpus callosum Cerebellar hypoplasia Delayed skeletal maturation Dilatation Intellectual disability, severe Camptodactyly Hypoplasia of the corpus callosum Respiratory distress Frontal bossing Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Hypofibrinogenemia Abnormality of the kidney Erythema Recurrent bacterial skin infections Postaxial hand polydactyly Scaling skin Urticaria Abnormality of the hand Multicystic kidney dysplasia Abnormality of the nail Abnormal vertebral morphology Hypoplasia of dental enamel Aganglionic megacolon Eczema Specific learning disability Scarring Palmoplantar keratoderma Postaxial polydactyly Ichthyosis Dry skin Hypotrichosis Platyspondyly Nail dystrophy Papule Hip dislocation Camptodactyly of finger Oculogyric crisis Macular hypoplasia Dacryocystitis Gait disturbance Paraplegia Abnormality of movement Spastic paraplegia Leukemia Rigidity Difficulty walking Jaundice Hyporeflexia Areflexia Tremor Lymphadenopathy Skeletal muscle atrophy Peripheral neuropathy Anemia Neoplasm Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Paresthesia Peripheral axonal neuropathy Hypersplenism Decreased nerve conduction velocity Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration White hair Gingivitis Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Cerebral hemorrhage Leukopenia Sensory neuropathy Foot dorsiflexor weakness Skin ulcer Hyperpigmentation of the skin Hypertriglyceridemia Pancytopenia Abnormality of extrapyramidal motor function Bradykinesia Peripheral demyelination Lymphoma Parkinsonism Polymorphous posterior corneal dystrophy


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