Arthritis, and Cutaneous photosensitivity

Diseases related with Arthritis and Cutaneous photosensitivity

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


Top matches:

Medium match SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6


Related symptoms:

  • Arthritis
  • Abnormality of the nervous system
  • Cutaneous photosensitivity
  • Spontaneous abortion
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6

Medium match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Low match EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10


Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by Bailey et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.

Related symptoms:

  • Seizures
  • Generalized myoclonic seizures
  • Febrile seizures
  • Cutaneous photosensitivity
  • Absence seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10

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Other less relevant matches:

Low match EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13


Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (OMIM ) and JME (OMIM ), respectively.

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Febrile seizures
  • Cutaneous photosensitivity
  • Absence seizures


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13

Low match AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA


Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp

Related symptoms:

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA

Low match CONE-ROD DYSTROPHY 12; CORD12


Related symptoms:

  • Visual loss
  • Reduced visual acuity
  • Progressive visual loss
  • Cutaneous photosensitivity
  • Cone/cone-rod dystrophy


SOURCES: MESH OMIM MENDELIAN

More info about CONE-ROD DYSTROPHY 12; CORD12

Low match TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3


Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 Is also known as ttda|trichothiodystrophy, complementation group a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cataract
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3

Low match PROTOPORPHYRIA, ERYTHROPOIETIC, 2; EPP2


Erythropoietic porphyria-2 is an autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). Affected individuals may have photosensitivity (summary by Yien et al., 2017)For discussion of genetic heterogeneity of EPP, see EPP1 (OMIM ).

Related symptoms:

  • Anemia
  • Cutaneous photosensitivity
  • Iron deficiency anemia


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 2; EPP2

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Low match HEPATOERYTHROPOIETIC PORPHYRIA


Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.

HEPATOERYTHROPOIETIC PORPHYRIA Is also known as hep

Related symptoms:

  • Hemolytic anemia
  • Cutaneous photosensitivity
  • Thin skin


SOURCES: ORPHANET MENDELIAN

More info about HEPATOERYTHROPOIETIC PORPHYRIA

Top 5 symptoms//phenotypes associated to Arthritis and Cutaneous photosensitivity

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Hemolytic anemia Rare - less than 30% cases
Congenital cataract Rare - less than 30% cases
Febrile seizures Rare - less than 30% cases
Absence seizures Rare - less than 30% cases
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Other less frequent symptoms

Patients with Arthritis and Cutaneous photosensitivity. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Edema Anemia Cataract Short stature Malar rash Pleuritis Antinuclear antibody positivity Pericarditis Systemic lupus erythematosus Flexion contracture Asthma Telangiectasia Abnormality of skin pigmentation Ichthyosis Joint contracture of the hand Progressive visual loss Neoplasm Intellectual disability Cone/cone-rod dystrophy Brittle hair Reduced visual acuity Visual loss Abnormality of the heme biosynthetic pathway Neoplasm of the skin Iron deficiency anemia Erythroderma Intrauterine growth retardation Rocker bottom foot Decreased fetal movement Brain atrophy Arthrogryposis multiplex congenita Cerebellar hypoplasia Microphthalmia Ventriculomegaly Talipes equinovarus Low-set ears Decreased fertility Cleft palate Micrognathia Growth delay Microcephaly Global developmental delay Cholelithiasis Tiger tail banding Congenital nonbullous ichthyosiform erythroderma Freckling Microcytic anemia Generalized tonic-clonic seizures Decreased liver function Abnormality of the skin Nephritis Leukopenia Purpura Vasculitis Inflammatory abnormality of the skin Psychosis Memory impairment Skin rash Rheumatoid arthritis Autoimmunity Alopecia Thrombocytopenia Midface retrusion Fatigue Cognitive impairment Abnormal renal physiology Spontaneous abortion Glomerulonephritis Abnormality of coagulation Eczema Antiphospholipid antibody positivity Cirrhosis Pruritus Erythema Abnormality of the nervous system Generalized myoclonic seizures Serositis Complement deficiency Raynaud phenomenon Increased antibody level in blood Gangrene Hashimoto thyroiditis Epiphyseal stippling Aseptic necrosis Autoimmune thrombocytopenia Thyroiditis Autoimmune hemolytic anemia Abnormality of the thyroid gland Thin skin



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