Anemia, and Photophobia

Diseases related with Anemia and Photophobia

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


Top matches:

Medium match RETINITIS PIGMENTOSA 79; RP79


Related symptoms:

  • Cognitive impairment
  • Anemia
  • Blindness
  • Visual loss
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 79; RP79

Medium match PITUITARY APOPLEXY


The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Medium match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

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Other less relevant matches:

Medium match HERMANSKY-PUDLAK SYNDROME 6; HPS6


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 6; HPS6

Medium match SENIOR-LOKEN SYNDROME


Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Medium match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Medium match STEVENS-JOHNSON SYNDROME


Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Related symptoms:

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about STEVENS-JOHNSON SYNDROME

Medium match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Medium match BLAU SYNDROME


Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF


Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Top 5 symptoms//phenotypes associated to Anemia and Photophobia

Symptoms // Phenotype % cases
Fever Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Hypertension Reduced visual acuity Retinal degeneration Fatigue Microcephaly Visual loss Global developmental delay Ataxia Short stature Erythema Renal insufficiency Papule Iron deficiency anemia Retinal dystrophy Strabismus

Rare Symptoms - Less than 30% cases


Hepatosplenomegaly Growth delay Dyspnea Keratitis Nephropathy Diarrhea Retinopathy Polyarticular arthritis Splenomegaly Skin rash Nephritis Weight loss Stage 5 chronic kidney disease Anal atresia Increased serum ferritin Blindness High myopia Nyctalopia Myopia Pallor Intrauterine growth retardation Rod-cone dystrophy Headache Nausea and vomiting Abnormality of the nervous system Sensorineural hearing impairment Cerebellar atrophy Dry skin Short neck Abnormality of the pleura Esophageal stricture Excessive salivation Micrognathia Downslanted palpebral fissures Acantholysis Abnormality of neutrophils Abnormality of the urethra Hypokalemic metabolic alkalosis Dyspareunia Hypertelorism Wide nasal bridge Cryptorchidism Cleft palate Cognitive impairment Conjunctivitis Entropion Hoarse cry Dysphagia Abnormality of ganglioside metabolism Truncal titubation Abnormality of mucopolysaccharide metabolism Oligosacchariduria Progressive psychomotor deterioration Dysplastic corpus callosum Recurrent respiratory infections Cerebral dysmyelination Esodeviation Titubation Decreased light- and dark-adapted electroretinogram amplitude Motor deterioration Developmental stagnation Abnormality of abdomen morphology Thrombocytopenia Abdominal pain Abnormal myocardium morphology Pancreatitis Dysuria Acute hepatic failure Corneal erosion Macule Restrictive ventilatory defect Eosinophilia Clinodactyly of the 5th finger Elevated hepatic transaminase Myocardial infarction Hepatitis Abnormal blistering of the skin Gastrointestinal hemorrhage Sudden cardiac death Sepsis Cough Abnormality of cardiovascular system morphology Microcytic anemia Macrotia Tremor Attention deficit hyperactivity disorder Proteinuria Deeply set eye Hyperactivity Dementia Cerebral atrophy Feeding difficulties Muscle cramps Flexion contracture Neoplasm Scoliosis Abnormal inflammatory response Retrobulbar optic neuritis Large vessel vasculitis Clear cell renal cell carcinoma Astigmatism Progressive cerebellar ataxia Abnormal salivary gland morphology Neoplasm of the skin Seborrheic keratosis Cholangiocarcinoma Defective DNA repair after ultraviolet radiation damage Morphological abnormality of the central nervous system Verrucae Tubular atrophy Freckling Bone marrow hypocellularity Brain atrophy Cafe-au-lait spot Decreased body weight Cutaneous photosensitivity Microdontia Prominent nose Delayed myelination Chorea Abnormal choroid morphology Iridocyclitis Low-set, posteriorly rotated ears Polycystic ovaries Pulverulent cataract Nuclear cataract Ectopic anus Abnormality of the elbow Palpebral edema Non-midline cleft lip Hypoplastic toenails Abnormality of the fingernails Arthralgia Bilateral single transverse palmar creases Hypoplasia of penis Convex nasal ridge Webbed neck Congenital cataract Severe global developmental delay Joint stiffness Glaucoma Facial palsy Posterior uveitis Pericarditis Erythema nodosum Synovitis Abnormality of the retinal vasculature Abnormality of the optic nerve Abnormal cranial nerve morphology Xerostomia Joint swelling Aortic aneurysm Abnormality of the liver Skin ulcer Hyperpigmentation of the skin Pulmonary arterial hypertension Limitation of joint mobility Ichthyosis Lymphadenopathy Camptodactyly of finger Severe vision loss Muscular hypotonia Opacification of the corneal stroma Atrophic scars Abnormal kinetic perimetry test Thunderclap headache Abnormal caudate nucleus morphology Abnormal static automated perimetry test Failure to thrive Respiratory insufficiency Edema Hyperhidrosis Hyperkeratosis Arthritis Autoimmunity Hemolytic anemia Epidermal acanthosis Chronic diarrhea Autoimmune hemolytic anemia Trigeminal neuralgia Thyroiditis Keratoconjunctivitis sicca Uveitis Antinuclear antibody positivity Follicular hyperkeratosis Villous atrophy Corneal neovascularization Increased IgA level Comedo Punctate keratitis Hernia Bruising susceptibility Migraine Epistaxis Bitemporal hemianopia Prolactin deficiency Recurrent urinary tract infections Cranial nerve paralysis Abnormality of skin pigmentation Optic disc pallor Exercise intolerance Constriction of peripheral visual field Macular atrophy Chorioretinal degeneration Ptosis Hypoglycemia Confusion Coma Growth hormone deficiency Hypotension Diplopia Hypergonadotropic hypogonadism Hyponatremia Mydriasis Excessive daytime somnolence Abnormality of the cerebrospinal fluid Galactorrhea Normochromic anemia Central diabetes insipidus Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Pituitary adenoma Impotence Prolactin excess Oligomenorrhea Increased circulating cortisol level Growth hormone excess Hypopituitarism Blurred vision Abnormal lung morphology Exotropia Aspiration Spasticity High hypermetropia Congenital blindness Severe sensorineural hearing impairment Peripheral visual field loss Tubulointerstitial nephritis Retinal dysplasia Congenital hepatic fibrosis Tapetoretinal degeneration Abnormality of bone mineral density Azotemia Multiple small medullary renal cysts Exudative retinopathy Generalized hypotonia Abnormal facial shape Hyperreflexia Diabetes insipidus Corneal opacity Amblyopia Progressive neurologic deterioration Spastic tetraplegia Esotropia Abnormality of eye movement Abnormality of the cerebral white matter Developmental regression Optic atrophy Coarse facial features Skeletal dysplasia Babinski sign Absent speech Dystonia Hypoplasia of the corpus callosum Nephronophthisis Polyuria Recurrent upper respiratory tract infections Impaired ADP-induced platelet aggregation Albinism Prolonged bleeding time Interstitial pulmonary abnormality Colitis Congenital nystagmus Hypoplasia of the fovea Ocular albinism Generalized hypopigmentation Rotary nystagmus Partial albinism Macular hypoplasia Endometriosis Absent foveal reflex Abnormal platelet granules Abnormality of the skeletal system Cone-shaped epiphysis Renal dysplasia Premature ovarian insufficiency Polydipsia Chronic kidney disease Incoordination Hepatic fibrosis Abnormality of retinal pigmentation Involuntary movements Vomiting Progressive visual loss Renal cyst Nausea Hypermetropia Scarring Abnormality of the kidney Numerous pigmented freckles



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