Cleft palate, and Systemic lupus erythematosus

Diseases related with Cleft palate and Systemic lupus erythematosus

In the following list you will find some of the most common rare diseases related to Cleft palate and Systemic lupus erythematosus that can help you solving undiagnosed cases.


Top matches:

Medium match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Medium match HEREDITARY ANGIOEDEMA TYPE 1


Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

Medium match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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Other less relevant matches:

Low match COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1 Is also known as c8ag deficiency|c8 deficiency, type i|c8 alpha-gamma deficiency

Related symptoms:

  • Meningitis
  • Systemic lupus erythematosus
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

Related symptoms:

  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Systemic lupus erythematosus
  • Recurrent mycobacterial infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY

Low match C1 INHIBITOR DEFICIENCY


Related symptoms:

  • Systemic lupus erythematosus
  • Angioedema


SOURCES: ORPHANET OMIM MENDELIAN

More info about C1 INHIBITOR DEFICIENCY

Low match ACETYLATION, SLOW


ACETYLATION, SLOW Is also known as inh inactivation, slow|isoniazid inactivation, slow|slow acetylator phenotype

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Abnormality of metabolism/homeostasis
  • Systemic lupus erythematosus
  • Bladder neoplasm


SOURCES: OMIM MENDELIAN

More info about ACETYLATION, SLOW

Low match AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS


Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.

AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as autosomal sle|familial systemic lupus erythematosus|familial sle

Related symptoms:

  • Systemic lupus erythematosus
  • Nephritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS

Low match OKT4 EPITOPE DEFICIENCY


OKT4 EPITOPE DEFICIENCY Is also known as t4 epitope deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy
  • Systemic lupus erythematosus
  • Abnormality of the thyroid gland
  • Graves disease


SOURCES: OMIM MENDELIAN

More info about OKT4 EPITOPE DEFICIENCY

Low match CHILBLAIN LUPUS 2; CHBL2


Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus (SLE ) characterized by tender, bluish-red swellings and nodules on the hands, feet, ears, and nose, with histologic changes of lupus. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months (summary by Ravenscroft et al., 2011).For a general description and a discussion of genetic heterogeneity of chilblain lupus, see CHBL1 (OMIM ).

Related symptoms:

  • Edema
  • Cutaneous photosensitivity
  • Inflammatory abnormality of the skin
  • Vasculitis
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about CHILBLAIN LUPUS 2; CHBL2

Top 5 symptoms//phenotypes associated to Cleft palate and Systemic lupus erythematosus

Symptoms // Phenotype % cases
Diarrhea Uncommon - Between 30% and 50% cases
Abnormality of metabolism/homeostasis Uncommon - Between 30% and 50% cases
Hearing impairment Rare - less than 30% cases
Prominent forehead Rare - less than 30% cases
Inflammatory abnormality of the skin Rare - less than 30% cases
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Other less frequent symptoms

Patients with Cleft palate and Systemic lupus erythematosus. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Edema Vomiting Erythema Convex nasal ridge Vasculitis Immunodeficiency Proptosis Recurrent infections Cutaneous photosensitivity Abnormal facial shape Short nose Malar flattening Angioedema Hypertelorism Ptosis Depressed nasal bridge Downslanted palpebral fissures Micrognathia Pruritus Laryngeal edema Abnormal epiglottis morphology Genu valgum Carious teeth Skin rash Tongue edema Arachnodactyly Dry skin Hirsutism Palmoplantar keratoderma Asthma Papule Abnormality of salivation Limbal edema Intellectual disability, severe Intellectual disability Global developmental delay Anemia High palate Delayed speech and language development Visual impairment Hepatomegaly Intellectual disability, mild Elevated hepatic transaminase Splenomegaly Dehydration Thrombocytopenia Obesity Recurrent respiratory infections Hyperkeratosis Hepatosplenomegaly High forehead Lymphedema Hepatitis Meningitis Concave nasal ridge White forelock Abnormality of the middle ear Poliosis Facial hirsutism Crusting erythematous dermatitis Diffuse telangiectasia Recurrent cystitis C8 deficiency Hypoplasia of the zygomatic bone Recurrent Neisserial infections Recurrent mycobacterial infections Neoplasm Bladder neoplasm Nephritis Lymphadenopathy Abnormality of the thyroid gland Graves disease Chronic lung disease Prolonged neonatal jaundice Low posterior hairline Recurrent pneumonia Depressed nasal ridge Thin skin Abnormal lung morphology Abnormality of retinal pigmentation Intestinal edema Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Generalized hirsutism Abnormality of the immune system Abnormality of the fingernails Reduced bone mineral density Psoriasiform dermatitis Osteomyelitis Increased antibody level in blood Petechiae Elevated erythrocyte sedimentation rate Abnormality of the hip bone Aplasia/Hypoplasia of the skin Abnormality of the uvula Ovarian cyst Pharyngeal edema Abnormality of dental enamel Renal hypoplasia Abnormal form of the vertebral bodies Abnormality of the genital system Short thumb Congenital hip dislocation Hemivertebrae Narrow palate Abnormal dermatoglyphics Renal agenesis Renal hypoplasia/aplasia Abnormality of the metacarpal bones Laryngomalacia Hypoplasia of the radius Deep philtrum Radioulnar synostosis Elbow dislocation Ectropion Abnormality of the ribs Hypodontia Mixed hearing impairment Retrognathia Nystagmus Cataract Low-set ears Frontal bossing Syndactyly Hypothyroidism Deeply set eye High, narrow palate Protruding ear Short philtrum Prominent nasal bridge Finger syndactyly Hip dislocation Congenital cataract Toe syndactyly Micromelia Hypoplasia of the ulna Absent thumb Abnormal respiratory system morphology Multiple myeloma Polycystic ovaries Urticaria Glomerulonephritis Stridor Axonal degeneration Upper airway obstruction Lymphoproliferative disorder Abnormality of the larynx Hypotension Scoliosis Chronic lymphatic leukemia Inspiratory stridor Facial edema Dermatographic urticaria Edema of the dorsum of hands Cryoglobulinemia Abnormal soft palate morphology Hoarse voice Nausea Abnormality of digit Synostosis of joints Congenital hypothyroidism Oligodactyly Synostosis of carpal bones Absent toenail Absent fingernail Foot oligodactyly Bilateral renal hypoplasia Crossed fused renal ectopia Pain Peripheral axonal neuropathy Dysphagia Respiratory distress Abdominal pain Weight loss Dyspnea Autoimmunity Leukemia Paresthesia Abnormal T cell morphology



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